We will be switching to the new UniProt website on Tuesday, June 28. Please explore and share your feedback.
Take me to UniProt BETA
UniProtKB - P04001 (OPSG_HUMAN)
Protein
Medium-wave-sensitive opsin 1
Gene
OPN1MW
Organism
Homo sapiens (Human)
Status
Functioni
Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.
3 PublicationsCaution
Medium-wave-sensitive opsin genes vary in number among individuals and, together with a single red pigment gene, reside in a head-to-tail tandem array within the X chromosome. In the GRCh38 reference genome assembly, there are 3 genes in tandem coding for identical proteins AC P04001, AC P0DN77 and P0DN78.Curated
Absorptioni
Abs(max)=530 nm1 Publication
GO - Molecular functioni
- G protein-coupled photoreceptor activity Source: GO_Central
- identical protein binding Source: UniProtKB
- photoreceptor activity Source: CACAO
GO - Biological processi
- cellular response to light stimulus Source: GO_Central
- G protein-coupled receptor signaling pathway Source: GO_Central
- phototransduction Source: GO_Central
- positive regulation of cytokinesis Source: UniProtKB
- protein-chromophore linkage Source: UniProtKB-KW
- visual perception Source: ProtInc
Keywordsi
Molecular function | G-protein coupled receptor, Photoreceptor protein, Receptor, Retinal protein, Transducer |
Biological process | Sensory transduction, Vision |
Ligand | Chromophore |
Enzyme and pathway databases
PathwayCommonsi | P04001 |
Reactomei | R-HSA-2187335, The retinoid cycle in cones (daylight vision) R-HSA-2453864, Retinoid cycle disease events R-HSA-418594, G alpha (i) signalling events R-HSA-419771, Opsins |
SignaLinki | P04001 |
SIGNORi | P04001 |
Names & Taxonomyi
Protein namesi | Recommended name: Medium-wave-sensitive opsin 1CuratedAlternative name(s): Green cone photoreceptor pigment Green-sensitive opsin Short name: GOP |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4206, OPN1MW |
MIMi | 300821, gene |
neXtProti | NX_P04001 |
VEuPathDBi | HostDB:ENSG00000268221 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: UniProtKB
Other locations
- photoreceptor disc membrane Source: Reactome
- photoreceptor outer segment Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 52 | ExtracellularCuratedAdd BLAST | 52 | |
Transmembranei | 53 – 77 | Helical; Name=1Sequence analysisAdd BLAST | 25 | |
Topological domaini | 78 – 89 | CytoplasmicCuratedAdd BLAST | 12 | |
Transmembranei | 90 – 115 | Helical; Name=2Sequence analysisAdd BLAST | 26 | |
Topological domaini | 116 – 129 | ExtracellularCuratedAdd BLAST | 14 | |
Transmembranei | 130 – 149 | Helical; Name=3Sequence analysisAdd BLAST | 20 | |
Topological domaini | 150 – 168 | CytoplasmicCuratedAdd BLAST | 19 | |
Transmembranei | 169 – 192 | Helical; Name=4Sequence analysisAdd BLAST | 24 | |
Topological domaini | 193 – 218 | ExtracellularCuratedAdd BLAST | 26 | |
Transmembranei | 219 – 246 | Helical; Name=5Sequence analysisAdd BLAST | 28 | |
Topological domaini | 247 – 268 | CytoplasmicCuratedAdd BLAST | 22 | |
Transmembranei | 269 – 292 | Helical; Name=6Sequence analysisAdd BLAST | 24 | |
Topological domaini | 293 – 300 | ExtracellularCurated | 8 | |
Transmembranei | 301 – 325 | Helical; Name=7Sequence analysisAdd BLAST | 25 | |
Topological domaini | 326 – 364 | CytoplasmicCuratedAdd BLAST | 39 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Colorblindness, partial, deutan series (CBD)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA color vision defect characterized by a dichromasy in which red and green are confused, without loss of luminance or shift or shortening of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064051 | 94 | N → K in CBD. 1 PublicationCorresponds to variant dbSNP:rs104894915EnsemblClinVar. | 1 | |
Natural variantiVAR_004841 | 203 | C → R in CBD and BCM. 2 PublicationsCorresponds to variant dbSNP:rs104894914EnsemblClinVar. | 1 | |
Natural variantiVAR_064053 | 330 | R → Q in CBD. 1 PublicationCorresponds to variant dbSNP:rs104894916EnsemblClinVar. | 1 |
Blue cone monochromacy (BCM)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_004841 | 203 | C → R in CBD and BCM. 2 PublicationsCorresponds to variant dbSNP:rs104894914EnsemblClinVar. | 1 |
Cone dystrophy 5 (COD5)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064052 | 177 | W → R in COD5; results in protein misfolding and retention in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs267606927EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 101060233 2652 728458 |
MalaCardsi | OPN1MW |
MIMi | 303700, phenotype 303800, phenotype |
OpenTargetsi | ENSG00000268221 |
Orphaneti | 16, Blue cone monochromatism 1872, Cone rod dystrophy 319698, NON RARE IN EUROPE: Partial color blindness, deutan type 90001, X-linked cone dysfunction syndrome with myopia |
PharmGKBi | PA142671229 |
Miscellaneous databases
Pharosi | P04001, Tdark |
Genetic variation databases
BioMutai | OPN1MW |
DMDMi | 129215 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000197785 | 1 – 364 | Medium-wave-sensitive opsin 1Add BLAST | 364 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 34 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Disulfide bondi | 126 ↔ 203 | PROSITE-ProRule annotation | ||
Modified residuei | 312 | N6-(retinylidene)lysineCurated | 1 |
Post-translational modificationi
Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.1 Publication
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
MassIVEi | P04001 |
PRIDEi | P04001 |
PTM databases
GlyGeni | P04001, 1 site |
iPTMneti | P04001 |
PhosphoSitePlusi | P04001 |
Expressioni
Tissue specificityi
The three color pigments are found in the cone photoreceptor cells.1 Publication
Gene expression databases
Bgeei | ENSG00000166160, Expressed in zone of skin and 6 other tissues |
ExpressionAtlasi | P04001, baseline |
Genevisiblei | P04001, HS |
Organism-specific databases
HPAi | ENSG00000268221, Tissue enriched (retina) |
Interactioni
Subunit structurei
Monomer. Homodimer. Homotetramer.
1 PublicationGO - Molecular functioni
- identical protein binding Source: UniProtKB
Miscellaneous databases
RNActi | P04001, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 23 | DisorderedSequence analysisAdd BLAST | 23 | |
Regioni | 17 – 43 | Required for 11-cis-retinal regeneration1 PublicationAdd BLAST | 27 |
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
HOGENOMi | CLU_009579_3_0_1 |
InParanoidi | P04001 |
OMAi | SAFWCSP |
OrthoDBi | 940057at2759 |
PhylomeDBi | P04001 |
TreeFami | TF324998 |
Family and domain databases
InterProi | View protein in InterPro IPR000276, GPCR_Rhodpsn IPR017452, GPCR_Rhodpsn_7TM IPR001760, Opsin IPR000378, Opsin_red/grn IPR027430, Retinal_BS |
Pfami | View protein in Pfam PF00001, 7tm_1, 1 hit |
PRINTSi | PR00237, GPCRRHODOPSN PR00238, OPSIN PR00575, OPSINREDGRN |
SMARTi | View protein in SMART SM01381, 7TM_GPCR_Srsx, 1 hit |
PROSITEi | View protein in PROSITE PS00237, G_PROTEIN_RECEP_F1_1, 1 hit PS50262, G_PROTEIN_RECEP_F1_2, 1 hit PS00238, OPSIN, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
P04001-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAQQWSLQRL AGRHPQDSYE DSTQSSIFTY TNSNSTRGPF EGPNYHIAPR
60 70 80 90 100
WVYHLTSVWM IFVVIASVFT NGLVLAATMK FKKLRHPLNW ILVNLAVADL
110 120 130 140 150
AETVIASTIS VVNQVYGYFV LGHPMCVLEG YTVSLCGITG LWSLAIISWE
160 170 180 190 200
RWMVVCKPFG NVRFDAKLAI VGIAFSWIWA AVWTAPPIFG WSRYWPHGLK
210 220 230 240 250
TSCGPDVFSG SSYPGVQSYM IVLMVTCCIT PLSIIVLCYL QVWLAIRAVA
260 270 280 290 300
KQQKESESTQ KAEKEVTRMV VVMVLAFCFC WGPYAFFACF AAANPGYPFH
310 320 330 340 350
PLMAALPAFF AKSATIYNPV IYVFMNRQFR NCILQLFGKK VDDGSELSSA
360
SKTEVSSVSS VSPA
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0Y642 | H0Y642_HUMAN | Medium-wave-sensitive opsin 1 | OPN1MW2 OPN1MW | 164 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064051 | 94 | N → K in CBD. 1 PublicationCorresponds to variant dbSNP:rs104894915EnsemblClinVar. | 1 | |
Natural variantiVAR_064052 | 177 | W → R in COD5; results in protein misfolding and retention in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs267606927EnsemblClinVar. | 1 | |
Natural variantiVAR_004841 | 203 | C → R in CBD and BCM. 2 PublicationsCorresponds to variant dbSNP:rs104894914EnsemblClinVar. | 1 | |
Natural variantiVAR_064053 | 330 | R → Q in CBD. 1 PublicationCorresponds to variant dbSNP:rs104894916EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | K03494 , M13306, K03490, K03491, K03492, K03493 Genomic DNA Translation: AAB59503.1 K03497, K03495, K03496 Genomic DNA Translation: AAB59525.1 Sequence problems. AC244097 Genomic DNA No translation available. |
CCDSi | CCDS14743.1 CCDS35447.1 |
PIRi | A03158, OOHUG |
RefSeqi | NP_000504.1, NM_000513.2 NP_001041646.1, NM_001048181.2 NP_001316996.1, NM_001330067.1 XP_016855469.1, XM_016999980.1 |
Genome annotation databases
Ensembli | ENST00000595290.6; ENSP00000472316.1; ENSG00000268221.6 |
GeneIDi | 101060233 2652 728458 |
KEGGi | hsa:101060233 hsa:2652 hsa:728458 |
MANE-Selecti | ENST00000369929.8; ENSP00000358945.4; NM_001048181.3; NP_001041646.1 ENST00000595290.6; ENSP00000472316.1; NM_000513.2; NP_000504.1 |
UCSCi | uc004fkb.4, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Mutations of the color pigment genes Retina International's Scientific Newsletter |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | K03494 , M13306, K03490, K03491, K03492, K03493 Genomic DNA Translation: AAB59503.1 K03497, K03495, K03496 Genomic DNA Translation: AAB59525.1 Sequence problems. AC244097 Genomic DNA No translation available. |
CCDSi | CCDS14743.1 CCDS35447.1 |
PIRi | A03158, OOHUG |
RefSeqi | NP_000504.1, NM_000513.2 NP_001041646.1, NM_001048181.2 NP_001316996.1, NM_001330067.1 XP_016855469.1, XM_016999980.1 |
3D structure databases
AlphaFoldDBi | P04001 |
SMRi | P04001 |
ModBasei | Search... |
Protein family/group databases
GPCRDBi | Search... |
PTM databases
GlyGeni | P04001, 1 site |
iPTMneti | P04001 |
PhosphoSitePlusi | P04001 |
Genetic variation databases
BioMutai | OPN1MW |
DMDMi | 129215 |
Proteomic databases
MassIVEi | P04001 |
PRIDEi | P04001 |
Protocols and materials databases
Antibodypediai | 75857, 63 antibodies from 12 providers |
DNASUi | 2652 |
Genome annotation databases
Ensembli | ENST00000595290.6; ENSP00000472316.1; ENSG00000268221.6 |
GeneIDi | 101060233 2652 728458 |
KEGGi | hsa:101060233 hsa:2652 hsa:728458 |
MANE-Selecti | ENST00000369929.8; ENSP00000358945.4; NM_001048181.3; NP_001041646.1 ENST00000595290.6; ENSP00000472316.1; NM_000513.2; NP_000504.1 |
UCSCi | uc004fkb.4, human |
Organism-specific databases
CTDi | 101060233 2652 728458 |
DisGeNETi | 101060233 2652 728458 |
GeneCardsi | OPN1MW |
HGNCi | HGNC:4206, OPN1MW |
HPAi | ENSG00000268221, Tissue enriched (retina) |
MalaCardsi | OPN1MW |
MIMi | 300821, gene 303700, phenotype 303800, phenotype |
neXtProti | NX_P04001 |
OpenTargetsi | ENSG00000268221 |
Orphaneti | 16, Blue cone monochromatism 1872, Cone rod dystrophy 319698, NON RARE IN EUROPE: Partial color blindness, deutan type 90001, X-linked cone dysfunction syndrome with myopia |
PharmGKBi | PA142671229 |
VEuPathDBi | HostDB:ENSG00000268221 |
GenAtlasi | Search... |
Phylogenomic databases
HOGENOMi | CLU_009579_3_0_1 |
InParanoidi | P04001 |
OMAi | SAFWCSP |
OrthoDBi | 940057at2759 |
PhylomeDBi | P04001 |
TreeFami | TF324998 |
Enzyme and pathway databases
PathwayCommonsi | P04001 |
Reactomei | R-HSA-2187335, The retinoid cycle in cones (daylight vision) R-HSA-2453864, Retinoid cycle disease events R-HSA-418594, G alpha (i) signalling events R-HSA-419771, Opsins |
SignaLinki | P04001 |
SIGNORi | P04001 |
Miscellaneous databases
BioGRID-ORCSi | 101060233, 1 hit in 5 CRISPR screens 2652, 7 hits in 205 CRISPR screens 728458, 3 hits in 217 CRISPR screens |
ChiTaRSi | OPN1MW, human |
GeneWikii | OPN1MW |
Pharosi | P04001, Tdark |
PROi | PR:P04001 |
RNActi | P04001, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000166160, Expressed in zone of skin and 6 other tissues |
ExpressionAtlasi | P04001, baseline |
Genevisiblei | P04001, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000276, GPCR_Rhodpsn IPR017452, GPCR_Rhodpsn_7TM IPR001760, Opsin IPR000378, Opsin_red/grn IPR027430, Retinal_BS |
Pfami | View protein in Pfam PF00001, 7tm_1, 1 hit |
PRINTSi | PR00237, GPCRRHODOPSN PR00238, OPSIN PR00575, OPSINREDGRN |
SMARTi | View protein in SMART SM01381, 7TM_GPCR_Srsx, 1 hit |
PROSITEi | View protein in PROSITE PS00237, G_PROTEIN_RECEP_F1_1, 1 hit PS50262, G_PROTEIN_RECEP_F1_2, 1 hit PS00238, OPSIN, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | OPSG_HUMAN | |
Accessioni | P04001Primary (citable) accession number: P04001 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 23, 1986 |
Last sequence update: | October 23, 1986 | |
Last modified: | May 25, 2022 | |
This is version 202 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- 7-transmembrane G-linked receptors
List of 7-transmembrane G-linked receptor entries - Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families