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P03999

- OPSB_HUMAN

UniProt

P03999 - OPSB_HUMAN

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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

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3333ExtracellularSequence AnalysisAdd
BLAST
Transmembranei34 – 5825Helical; Name=1Sequence AnalysisAdd
BLAST
Topological domaini59 – 7012CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei71 – 9626Helical; Name=2Sequence AnalysisAdd
BLAST
Topological domaini97 – 11014ExtracellularSequence AnalysisAdd
BLAST
Transmembranei111 – 13020Helical; Name=3Sequence AnalysisAdd
BLAST
Topological domaini131 – 14919CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei150 – 17324Helical; Name=4Sequence AnalysisAdd
BLAST
Topological domaini174 – 19926ExtracellularSequence AnalysisAdd
BLAST
Transmembranei200 – 22728Helical; Name=5Sequence AnalysisAdd
BLAST
Topological domaini228 – 24922CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei250 – 27324Helical; Name=6Sequence AnalysisAdd
BLAST
Topological domaini274 – 2818ExtracellularSequence Analysis
Transmembranei282 – 30625Helical; Name=7Sequence AnalysisAdd
BLAST
Topological domaini307 – 34842CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

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

BgeeiP03999.
CleanExiHS_OPN1SW.
ExpressionAtlasiP03999. baseline.
GenevestigatoriP03999.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000249389.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1KPNmodel-A1-348[»]
ProteinModelPortaliP03999.
SMRiP03999. Positions 9-319.
ModBaseiSearch...
MobiDBiSearch...

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

        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
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:
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.
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:
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 .
CCDSi CCDS5806.1.
PIRi A03156. OOHUB.
RefSeqi NP_001699.1. NM_001708.2.
UniGenei Hs.656404.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1KPN model - A 1-348 [» ]
ProteinModelPortali P03999.
SMRi P03999. Positions 9-319.
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

Bgeei P03999.
CleanExi HS_OPN1SW.
ExpressionAtlasi P03999. baseline.
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: November 26, 2014
This is version 150 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