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P03999

- OPSB_HUMAN

UniProt

P03999 - OPSB_HUMAN

Protein

Short-wave-sensitive opsin 1

Gene

OPN1SW

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 148 (01 Oct 2014)
      Sequence version 1 (23 Oct 1986)
      Previous versions | rss
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    Functioni

    Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.

    Absorptioni

    Abs(max)=420 nm

    GO - Molecular functioni

    1. G-protein coupled receptor activity Source: UniProtKB-KW
    2. photoreceptor activity Source: UniProtKB-KW
    3. receptor activity Source: ProtInc

    GO - Biological processi

    1. phototransduction Source: ProtInc
    2. phototransduction, visible light Source: Reactome
    3. protein-chromophore linkage Source: UniProtKB-KW
    4. retinoid metabolic process Source: Reactome
    5. signal transduction Source: ProtInc
    6. visual perception Source: ProtInc

    Keywords - Molecular functioni

    G-protein coupled receptor, Photoreceptor protein, Receptor, Retinal protein, Transducer

    Keywords - Biological processi

    Sensory transduction, Vision

    Keywords - Ligandi

    Chromophore

    Enzyme and pathway databases

    ReactomeiREACT_160083. The retinoid cycle in cones (daylight vision).
    REACT_160130. Retinoid cycle disease events.
    REACT_18426. Opsins.
    REACT_19231. G alpha (i) signalling events.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Short-wave-sensitive opsin 1
    Alternative name(s):
    Blue cone photoreceptor pigment
    Blue-sensitive opsin
    Short name:
    BOP
    Gene namesi
    Name:OPN1SW
    Synonyms:BCP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:1012. OPN1SW.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. photoreceptor outer segment membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Tritan color blindness (CBT) [MIM:190900]: A disorder of vision characterized by a selective deficiency of blue spectral sensitivity.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti79 – 791G → R in CBT. 1 Publication
    Corresponds to variant rs104894031 [ dbSNP | Ensembl ].
    VAR_004838
    Natural varianti214 – 2141S → P in CBT. 1 Publication
    VAR_004839
    Natural varianti264 – 2641P → S in CBT. 2 Publications
    VAR_004840

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi190900. phenotype.
    Orphaneti88629. Tritanopia.
    PharmGKBiPA31938.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 348348Short-wave-sensitive opsin 1PRO_0000197762Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi14 – 141N-linked (GlcNAc...)Curated
    Disulfide bondi107 ↔ 184PROSITE-ProRule annotation
    Modified residuei293 – 2931N6-(retinylidene)lysine

    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, Phosphoprotein

    Proteomic databases

    PaxDbiP03999.
    PRIDEiP03999.

    Expressioni

    Tissue specificityi

    The three color pigments are found in the cone photoreceptor cells.

    Gene expression databases

    ArrayExpressiP03999.
    BgeeiP03999.
    CleanExiHS_OPN1SW.
    GenevestigatoriP03999.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000249389.

    Structurei

    Secondary structure

    1
    348
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi3 – 53
    Beta strandi10 – 123
    Beta strandi20 – 234
    Turni26 – 283
    Helixi31 – 6131
    Helixi68 – 8619
    Helixi88 – 9710
    Turni101 – 1033
    Helixi104 – 13734
    Beta strandi140 – 1423
    Helixi147 – 16519
    Helixi167 – 1704
    Beta strandi175 – 1784
    Turni179 – 1824
    Beta strandi183 – 1864
    Turni193 – 1964
    Helixi197 – 20812
    Helixi210 – 22617
    Helixi241 – 27434
    Turni275 – 2773
    Helixi282 – 29211
    Helixi293 – 2964
    Helixi298 – 3069
    Helixi308 – 31912
    Beta strandi331 – 3344
    Beta strandi339 – 3424

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1KPNmodel-A1-348[»]
    ProteinModelPortaliP03999.
    SMRiP03999. Positions 9-341.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3333ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini59 – 7012CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini97 – 11014ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini131 – 14919CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini174 – 19926ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini228 – 24922CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini274 – 2818ExtracellularSequence Analysis
    Topological domaini307 – 34842CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei34 – 5825Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei71 – 9626Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei111 – 13020Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei150 – 17324Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei200 – 22728Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei250 – 27324Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei282 – 30625Helical; Name=7Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG237118.
    HOGENOMiHOG000253932.
    HOVERGENiHBG107442.
    InParanoidiP03999.
    KOiK04252.
    OMAiYAALAMY.
    OrthoDBiEOG72NRQJ.
    PhylomeDBiP03999.
    TreeFamiTF324998.

    Family and domain databases

    Gene3Di1.20.1070.10. 1 hit.
    InterProiIPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR001760. Opsin.
    IPR001521. Opsin_blue.
    IPR027430. Retinal_BS.
    [Graphical view]
    PfamiPF00001. 7tm_1. 1 hit.
    [Graphical view]
    PRINTSiPR00237. GPCRRHODOPSN.
    PR00238. OPSIN.
    PR00574. OPSINBLUE.
    PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    PS00238. OPSIN. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P03999-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRKMSEEEFY LFKNISSVGP WDGPQYHIAP VWAFYLQAAF MGTVFLIGFP    50
    LNAMVLVATL RYKKLRQPLN YILVNVSFGG FLLCIFSVFP VFVASCNGYF 100
    VFGRHVCALE GFLGTVAGLV TGWSLAFLAF ERYIVICKPF GNFRFSSKHA 150
    LTVVLATWTI GIGVSIPPFF GWSRFIPEGL QCSCGPDWYT VGTKYRSESY 200
    TWFLFIFCFI VPLSLICFSY TQLLRALKAV AAQQQESATT QKAEREVSRM 250
    VVVMVGSFCV CYVPYAAFAM YMVNNRNHGL DLRLVTIPSF FSKSACIYNP 300
    IIYCFMNKQF QACIMKMVCG KAMTDESDTC SSQKTEVSTV SSTQVGPN 348
    Length:348
    Mass (Da):39,135
    Last modified:October 23, 1986 - v1
    Checksum:i83FAB2E7111CB581
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti308 – 3103KQF → VKL(PubMed:2565599)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti79 – 791G → R in CBT. 1 Publication
    Corresponds to variant rs104894031 [ dbSNP | Ensembl ].
    VAR_004838
    Natural varianti214 – 2141S → P in CBT. 1 Publication
    VAR_004839
    Natural varianti264 – 2641P → S in CBT. 2 Publications
    VAR_004840

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSiCCDS5806.1.
    PIRiA03156. OOHUB.
    RefSeqiNP_001699.1. NM_001708.2.
    UniGeneiHs.656404.

    Genome annotation databases

    EnsembliENST00000249389; ENSP00000249389; ENSG00000128617.
    GeneIDi611.
    KEGGihsa:611.
    UCSCiuc003vnt.4. human.

    Polymorphism databases

    DMDMi129203.

    Cross-referencesi

    Web resourcesi

    Mutations of the color pigment genes

    Retina International's Scientific Newsletter

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS5806.1.
    PIRi A03156. OOHUB.
    RefSeqi NP_001699.1. NM_001708.2.
    UniGenei Hs.656404.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1KPN model - A 1-348 [» ]
    ProteinModelPortali P03999.
    SMRi P03999. Positions 9-341.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000249389.

    Protein family/group databases

    GPCRDBi Search...

    Polymorphism databases

    DMDMi 129203.

    Proteomic databases

    PaxDbi P03999.
    PRIDEi P03999.

    Protocols and materials databases

    DNASUi 611.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000249389 ; ENSP00000249389 ; ENSG00000128617 .
    GeneIDi 611.
    KEGGi hsa:611.
    UCSCi uc003vnt.4. human.

    Organism-specific databases

    CTDi 611.
    GeneCardsi GC07M128412.
    H-InvDB HIX0167900.
    HGNCi HGNC:1012. OPN1SW.
    MIMi 190900. phenotype.
    613522. gene.
    neXtProti NX_P03999.
    Orphaneti 88629. Tritanopia.
    PharmGKBi PA31938.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG237118.
    HOGENOMi HOG000253932.
    HOVERGENi HBG107442.
    InParanoidi P03999.
    KOi K04252.
    OMAi YAALAMY.
    OrthoDBi EOG72NRQJ.
    PhylomeDBi P03999.
    TreeFami TF324998.

    Enzyme and pathway databases

    Reactomei REACT_160083. The retinoid cycle in cones (daylight vision).
    REACT_160130. Retinoid cycle disease events.
    REACT_18426. Opsins.
    REACT_19231. G alpha (i) signalling events.

    Miscellaneous databases

    GeneWikii OPN1SW.
    GenomeRNAii 611.
    NextBioi 2481.
    PROi P03999.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P03999.
    Bgeei P03999.
    CleanExi HS_OPN1SW.
    Genevestigatori P03999.

    Family and domain databases

    Gene3Di 1.20.1070.10. 1 hit.
    InterProi IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR001760. Opsin.
    IPR001521. Opsin_blue.
    IPR027430. Retinal_BS.
    [Graphical view ]
    Pfami PF00001. 7tm_1. 1 hit.
    [Graphical view ]
    PRINTSi PR00237. GPCRRHODOPSN.
    PR00238. OPSIN.
    PR00574. OPSINBLUE.
    PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    PS00238. OPSIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular genetics of human color vision: the genes encoding blue, green, and red pigments."
      Nathans J., Thomas D., Hogness D.S.
      Science 232:193-202(1986) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Retinal cone cell.
    2. "Sequences and evolution of human and squirrel monkey blue opsin genes."
      Shimmin L.C., Mai P., Li W.H.
      J. Mol. Evol. 44:378-382(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "A point mutation in the blue cone opsin gene causes tritanopia in two autosomal dominant tritan pedigrees."
      Li T., Studencki A., Falk J., Smith V., Pokorny J., Went L., O'Shea R., Applebury M.L.
      Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT TRITANOPIA SER-264.
    4. "Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity."
      Sarkar G., Sommer S.S.
      Science 244:331-334(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 272-310.
    5. "Molecular biology of the visual pigments."
      Applebury M.L., Hargrave P.A.
      Vision Res. 26:1881-1895(1986) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    6. "Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin."
      Weitz C.J., Miyake Y., Shinzato K., Montag E., Zrenner E., Went L.N., Nathans J.
      Am. J. Hum. Genet. 50:498-507(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CBT ARG-79 AND PRO-214.
    7. "Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment."
      Weitz C.J., Went L.N., Nathans J.
      Am. J. Hum. Genet. 51:444-446(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CBT SER-264.

    Entry informationi

    Entry nameiOPSB_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 148 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. 7-transmembrane G-linked receptors
      List of 7-transmembrane G-linked receptor entries
    2. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3