OPN1MW
Medium-wave-sensitive opsin 1
Also known as: CBBM, CBD, COD5, GCP, OPN1MW1, OPSG_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P04001
- Gene
- OPN1MW
- Ensembl
- ENSG00000268221
- Chromosome
- X
- Canonical length
- 364 aa
- Protein class
- Disease related genes, G-protein coupled receptors, Human disease related genes, Potential drug targets, Predicted membrane proteins
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]
Canonical amino-acid sequenceUniProt
364 residues, UniProt reviewed canonical sequence.
>P04001|OPN1MW
1 MAQQWSLQRL AGRHPQDSYE DSTQSSIFTY TNSNSTRGPF EGPNYHIAPR WVYHLTSVWM
61 IFVVIASVFT NGLVLAATMK FKKLRHPLNW ILVNLAVADL AETVIASTIS VVNQVYGYFV
121 LGHPMCVLEG YTVSLCGITG LWSLAIISWE RWMVVCKPFG NVRFDAKLAI VGIAFSWIWA
181 AVWTAPPIFG WSRYWPHGLK TSCGPDVFSG SSYPGVQSYM IVLMVTCCIT PLSIIVLCYL
241 QVWLAIRAVA KQQKESESTQ KAEKEVTRMV VVMVLAFCFC WGPYAFFACF AAANPGYPFH
301 PLMAALPAFF AKSATIYNPV IYVFMNRQFR NCILQLFGKK VDDGSELSSA SKTEVSSVSS
361 VSPALocalizationUniProt · AlphaFold · HPA
Whether an antibody against OPN1MW 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)
- 0.3
- Highest tissue expression
- 13 nTPM
Expression across tissuesHPA
Tissue
- retina: 13 nTPM
- skin: 0.1 nTPM
- adipose tissue: 0 nTPM
- adrenal gland: 0 nTPM
- amygdala: 0 nTPM
- appendix: 0 nTPM
Single-cell type
- cone photoreceptor cells: 29 nCPM
- megakaryocyte-erythroid progenitors: 0.4 nCPM
- rod photoreceptor cells: 0.2 nCPM
- adipocytes: 0 nCPM
- adrenal cortex cells: 0 nCPM
- adrenal medulla cells: 0 nCPM
Immune cell
- gdT-cell: 0.3 nTPM
- naive CD8 T-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- cerebral cortex: 0.1 nTPM
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- choroid plexus: 0 nTPM
- hippocampal formation: 0 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about OPN1MW.
Disease | AllUniProt
Conditions OPN1MW is implicated in, by any mechanism.
- Colorblindness, partial, deutan series (CBD) MIM:303800
- Blue cone monochromacy (BCM) MIM:303700
- Cone dystrophy 5 (COD5) MIM:303700
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 39 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Deuteranomaly
- Cone monochromatism
- Cone dystrophy 5, X-linked
- Achromatopsia
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)
- 1.78
- gnomAD pLI
- 0.04
- gnomAD missense Z
- 0.75
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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
- G protein-coupled receptor signaling pathway
- phototransduction
- positive regulation of cytokinesis
- visual perception
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads OPN1MW as an antibody target. Whether an autoantibody or antibody against OPN1MW could matter depends on whether native OPN1MW is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
OPN1MW is annotated at the cell surface, where native OPN1MW 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 OPN1MW as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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