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 - P03999 (OPSB_HUMAN)
Protein
Short-wave-sensitive opsin 1
Gene
OPN1SW
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 (Probable). Required for the maintenance of cone outer segment organization in the ventral retina, but not essential for the maintenance of functioning cone photoreceptors (By similarity).
Involved in ensuring correct abundance and localization of retinal membrane proteins (By similarity).
May increase spectral sensitivity in dim light (By similarity).
By similarity1 PublicationAbsorptioni
Abs(max)=420 nm
GO - Molecular functioni
- G protein-coupled photoreceptor activity Source: GO_Central
- signaling receptor activity Source: ProtInc
GO - Biological processi
- cellular response to light stimulus Source: GO_Central
- cellular response to UV-A Source: UniProtKB
- G protein-coupled receptor signaling pathway Source: GO_Central
- phototransduction Source: GO_Central
- protein-chromophore linkage Source: UniProtKB-KW
- signal transduction Source: ProtInc
- 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 | P03999 |
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 | P03999 |
Names & Taxonomyi
Protein namesi | Recommended name: Short-wave-sensitive opsin 1Alternative name(s): Blue cone photoreceptor pigment Blue-sensitive opsin Short name: BOP |
Gene namesi | Name:OPN1SW Synonyms:BCP |
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:1012, OPN1SW |
MIMi | 613522, gene |
neXtProti | NX_P03999 |
VEuPathDBi | HostDB:ENSG00000128617 |
Subcellular locationi
Plasma membrane
- Cell membrane 3 Publications; Multi-pass membrane protein Sequence analysis
Other locations
- Photoreceptor inner segment By similarity
- photoreceptor outer segment By similarity
- perinuclear region 1 Publication
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: UniProtKB
Other locations
- perinuclear region of cytoplasm Source: UniProtKB
- photoreceptor disc membrane Source: Reactome
- photoreceptor inner segment Source: UniProtKB-SubCell
- photoreceptor outer segment Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 33 | ExtracellularSequence analysisAdd BLAST | 33 | |
Transmembranei | 34 – 58 | Helical; Name=1Sequence analysisAdd BLAST | 25 | |
Topological domaini | 59 – 70 | CytoplasmicSequence analysisAdd BLAST | 12 | |
Transmembranei | 71 – 96 | Helical; Name=2Sequence analysisAdd BLAST | 26 | |
Topological domaini | 97 – 110 | ExtracellularSequence analysisAdd BLAST | 14 | |
Transmembranei | 111 – 130 | Helical; Name=3Sequence analysisAdd BLAST | 20 | |
Topological domaini | 131 – 149 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 150 – 173 | Helical; Name=4Sequence analysisAdd BLAST | 24 | |
Topological domaini | 174 – 199 | ExtracellularSequence analysisAdd BLAST | 26 | |
Transmembranei | 200 – 227 | Helical; Name=5Sequence analysisAdd BLAST | 28 | |
Topological domaini | 228 – 249 | CytoplasmicSequence analysisAdd BLAST | 22 | |
Transmembranei | 250 – 273 | Helical; Name=6Sequence analysisAdd BLAST | 24 | |
Topological domaini | 274 – 281 | ExtracellularSequence analysis | 8 | |
Transmembranei | 282 – 306 | Helical; Name=7Sequence analysisAdd BLAST | 25 | |
Topological domaini | 307 – 348 | CytoplasmicSequence analysisAdd BLAST | 42 |
Keywords - Cellular componenti
Cell membrane, Cell projection, Cytoplasm, MembranePathology & Biotechi
Involvement in diseasei
Tritan color blindness (CBT)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder of vision characterized by a selective deficiency of blue spectral sensitivity.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_004838 | 79 | G → R in CBT. 1 PublicationCorresponds to variant dbSNP:rs104894031EnsemblClinVar. | 1 | |
Natural variantiVAR_081835 | 190 | T → I in CBT. 1 PublicationCorresponds to variant dbSNP:rs1190183515Ensembl. | 1 | |
Natural variantiVAR_004839 | 214 | S → P in CBT. 1 PublicationCorresponds to variant dbSNP:rs104894032EnsemblClinVar. | 1 | |
Natural variantiVAR_004840 | 264 | P → S in CBT. 2 PublicationsCorresponds to variant dbSNP:rs104894033EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 611 |
MalaCardsi | OPN1SW |
MIMi | 190900, phenotype |
Orphaneti | 88629, Tritanopia |
PharmGKBi | PA31938 |
Miscellaneous databases
Pharosi | P03999, Tbio |
Genetic variation databases
BioMutai | OPN1SW |
DMDMi | 129203 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000197762 | 1 – 348 | Short-wave-sensitive opsin 1Add BLAST | 348 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 14 | N-linked (GlcNAc...) asparagineCurated | 1 | |
Disulfide bondi | 107 ↔ 184 | PROSITE-ProRule annotation | ||
Modified residuei | 293 | N6-(retinylidene)lysine | 1 |
Post-translational modificationi
Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
MassIVEi | P03999 |
PaxDbi | P03999 |
PeptideAtlasi | P03999 |
PRIDEi | P03999 |
ProteomicsDBi | 51629 |
PTM databases
GlyGeni | P03999, 1 site |
iPTMneti | P03999 |
PhosphoSitePlusi | P03999 |
Expressioni
Tissue specificityi
The three color pigments are found in the cone photoreceptor cells (PubMed:2937147). Expressed throughout the epidermis and dermis, primarily in the stratum granulosum in the facial and abdominal skin (at protein level) (PubMed:30168605). Expressed in dermal fibroblasts (at protein level) (PubMed:31380578). Expressed in melanocytes (at protein level) (PubMed:31730232).4 Publications
Inductioni
Induced by ultraviolet A light in dermal fibroblasts.1 Publication
Gene expression databases
Bgeei | ENSG00000128617, Expressed in lower esophagus and 117 other tissues |
ExpressionAtlasi | P03999, baseline and differential |
Genevisiblei | P03999, HS |
Organism-specific databases
HPAi | ENSG00000128617, Tissue enriched (retina) |
Interactioni
Binary interactionsi
P03999
With | #Exp. | IntAct |
---|---|---|
MFF - isoform 5 [Q9GZY8-5] | 3 | EBI-13385956,EBI-11956541 |
Protein-protein interaction databases
BioGRIDi | 107082, 7 interactors |
IntActi | P03999, 1 interactor |
STRINGi | 9606.ENSP00000249389 |
Miscellaneous databases
RNActi | P03999, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3656, Eukaryota |
HOGENOMi | CLU_009579_3_0_1 |
InParanoidi | P03999 |
OMAi | CLCYVPY |
OrthoDBi | 940057at2759 |
PhylomeDBi | P03999 |
TreeFami | TF324998 |
Family and domain databases
InterProi | View protein in InterPro IPR000276, GPCR_Rhodpsn IPR017452, GPCR_Rhodpsn_7TM IPR001760, Opsin IPR001521, Opsin_blue IPR027430, Retinal_BS |
Pfami | View protein in Pfam PF00001, 7tm_1, 1 hit |
PRINTSi | PR00237, GPCRRHODOPSN PR00238, OPSIN PR00574, OPSINBLUE |
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 |
i Sequence
Sequence statusi: Complete.
P03999-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MRKMSEEEFY LFKNISSVGP WDGPQYHIAP VWAFYLQAAF MGTVFLIGFP
60 70 80 90 100
LNAMVLVATL RYKKLRQPLN YILVNVSFGG FLLCIFSVFP VFVASCNGYF
110 120 130 140 150
VFGRHVCALE GFLGTVAGLV TGWSLAFLAF ERYIVICKPF GNFRFSSKHA
160 170 180 190 200
LTVVLATWTI GIGVSIPPFF GWSRFIPEGL QCSCGPDWYT VGTKYRSESY
210 220 230 240 250
TWFLFIFCFI VPLSLICFSY TQLLRALKAV AAQQQESATT QKAEREVSRM
260 270 280 290 300
VVVMVGSFCV CYVPYAAFAM YMVNNRNHGL DLRLVTIPSF FSKSACIYNP
310 320 330 340
IIYCFMNKQF QACIMKMVCG KAMTDESDTC SSQKTEVSTV SSTQVGPN
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 308 – 310 | KQF → VKL (PubMed:2565599).Curated | 3 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_004838 | 79 | G → R in CBT. 1 PublicationCorresponds to variant dbSNP:rs104894031EnsemblClinVar. | 1 | |
Natural variantiVAR_081835 | 190 | T → I in CBT. 1 PublicationCorresponds to variant dbSNP:rs1190183515Ensembl. | 1 | |
Natural variantiVAR_004839 | 214 | S → P in CBT. 1 PublicationCorresponds to variant dbSNP:rs104894032EnsemblClinVar. | 1 | |
Natural variantiVAR_004840 | 264 | P → S in CBT. 2 PublicationsCorresponds to variant dbSNP:rs104894033EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M13299 , M13295, M13296, M13297, M13298 Genomic DNA Translation: AAB05207.1 U53874 Genomic DNA Translation: AAC51334.1 L32835 Genomic DNA Translation: AAL31362.1 M26172 mRNA Translation: AAA35608.1 |
PIRi | A03156, OOHUB |
RefSeqi | NP_001699.1, NM_001708.2 |
Genome annotation databases
Ensembli | ENST00000249389.3; ENSP00000249389.3; ENSG00000128617.3 |
GeneIDi | 611 |
MANE-Selecti | ENST00000249389.3; ENSP00000249389.3; NM_001385125.1; NP_001372054.1 |
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 | M13299 , M13295, M13296, M13297, M13298 Genomic DNA Translation: AAB05207.1 U53874 Genomic DNA Translation: AAC51334.1 L32835 Genomic DNA Translation: AAL31362.1 M26172 mRNA Translation: AAA35608.1 |
PIRi | A03156, OOHUB |
RefSeqi | NP_001699.1, NM_001708.2 |
3D structure databases
AlphaFoldDBi | P03999 |
SMRi | P03999 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107082, 7 interactors |
IntActi | P03999, 1 interactor |
STRINGi | 9606.ENSP00000249389 |
Protein family/group databases
GPCRDBi | Search... |
PTM databases
GlyGeni | P03999, 1 site |
iPTMneti | P03999 |
PhosphoSitePlusi | P03999 |
Genetic variation databases
BioMutai | OPN1SW |
DMDMi | 129203 |
Proteomic databases
MassIVEi | P03999 |
PaxDbi | P03999 |
PeptideAtlasi | P03999 |
PRIDEi | P03999 |
ProteomicsDBi | 51629 |
Protocols and materials databases
Antibodypediai | 31899, 81 antibodies from 19 providers |
DNASUi | 611 |
Genome annotation databases
Ensembli | ENST00000249389.3; ENSP00000249389.3; ENSG00000128617.3 |
GeneIDi | 611 |
MANE-Selecti | ENST00000249389.3; ENSP00000249389.3; NM_001385125.1; NP_001372054.1 |
Organism-specific databases
CTDi | 611 |
DisGeNETi | 611 |
GeneCardsi | OPN1SW |
HGNCi | HGNC:1012, OPN1SW |
HPAi | ENSG00000128617, Tissue enriched (retina) |
MalaCardsi | OPN1SW |
MIMi | 190900, phenotype 613522, gene |
neXtProti | NX_P03999 |
Orphaneti | 88629, Tritanopia |
PharmGKBi | PA31938 |
VEuPathDBi | HostDB:ENSG00000128617 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3656, Eukaryota |
HOGENOMi | CLU_009579_3_0_1 |
InParanoidi | P03999 |
OMAi | CLCYVPY |
OrthoDBi | 940057at2759 |
PhylomeDBi | P03999 |
TreeFami | TF324998 |
Enzyme and pathway databases
PathwayCommonsi | P03999 |
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 | P03999 |
Miscellaneous databases
BioGRID-ORCSi | 611, 8 hits in 1067 CRISPR screens |
GeneWikii | OPN1SW |
GenomeRNAii | 611 |
Pharosi | P03999, Tbio |
PROi | PR:P03999 |
RNActi | P03999, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000128617, Expressed in lower esophagus and 117 other tissues |
ExpressionAtlasi | P03999, baseline and differential |
Genevisiblei | P03999, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000276, GPCR_Rhodpsn IPR017452, GPCR_Rhodpsn_7TM IPR001760, Opsin IPR001521, Opsin_blue IPR027430, Retinal_BS |
Pfami | View protein in Pfam PF00001, 7tm_1, 1 hit |
PRINTSi | PR00237, GPCRRHODOPSN PR00238, OPSIN PR00574, OPSINBLUE |
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 | OPSB_HUMAN | |
Accessioni | P03999Primary (citable) accession number: P03999 Secondary accession number(s): Q13877 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 23, 1986 |
Last sequence update: | October 23, 1986 | |
Last modified: | May 25, 2022 | |
This is version 199 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 7
Human chromosome 7: 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