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P03999 (OPSB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 146. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Short-wave-sensitive opsin 1
Alternative name(s):
Blue cone photoreceptor pigment
Blue-sensitive opsin
Short name=BOP
Gene names
Name:OPN1SW
Synonyms:BCP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length348 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

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

Post-translational modification

Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.

Involvement in disease

Tritan color blindness (CBT) [MIM:190900]: A disorder of vision characterized by a selective deficiency of blue spectral sensitivity.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7

Sequence similarities

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

Biophysicochemical properties

Absorption:

Abs(max)=420 nm

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 348348Short-wave-sensitive opsin 1
PRO_0000197762

Regions

Topological domain1 – 3333Extracellular Potential
Transmembrane34 – 5825Helical; Name=1; Potential
Topological domain59 – 7012Cytoplasmic Potential
Transmembrane71 – 9626Helical; Name=2; Potential
Topological domain97 – 11014Extracellular Potential
Transmembrane111 – 13020Helical; Name=3; Potential
Topological domain131 – 14919Cytoplasmic Potential
Transmembrane150 – 17324Helical; Name=4; Potential
Topological domain174 – 19926Extracellular Potential
Transmembrane200 – 22728Helical; Name=5; Potential
Topological domain228 – 24922Cytoplasmic Potential
Transmembrane250 – 27324Helical; Name=6; Potential
Topological domain274 – 2818Extracellular Potential
Transmembrane282 – 30625Helical; Name=7; Potential
Topological domain307 – 34842Cytoplasmic Potential

Amino acid modifications

Modified residue2931N6-(retinylidene)lysine
Glycosylation141N-linked (GlcNAc...) Probable
Disulfide bond107 ↔ 184 Potential

Natural variations

Natural variant791G → R in CBT. Ref.6
Corresponds to variant rs104894031 [ dbSNP | Ensembl ].
VAR_004838
Natural variant2141S → P in CBT. Ref.6
VAR_004839
Natural variant2641P → S in CBT. Ref.3 Ref.7
VAR_004840

Experimental info

Sequence conflict308 – 3103KQF → VKL Ref.4

Secondary structure

............................................... 348
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P03999 [UniParc].

Last modified October 23, 1986. Version 1.
Checksum: 83FAB2E7111CB581

FASTA34839,135
        10         20         30         40         50         60 
MRKMSEEEFY LFKNISSVGP WDGPQYHIAP VWAFYLQAAF MGTVFLIGFP LNAMVLVATL 

        70         80         90        100        110        120 
RYKKLRQPLN YILVNVSFGG FLLCIFSVFP VFVASCNGYF VFGRHVCALE GFLGTVAGLV 

       130        140        150        160        170        180 
TGWSLAFLAF ERYIVICKPF GNFRFSSKHA LTVVLATWTI GIGVSIPPFF GWSRFIPEGL 

       190        200        210        220        230        240 
QCSCGPDWYT VGTKYRSESY TWFLFIFCFI VPLSLICFSY TQLLRALKAV AAQQQESATT 

       250        260        270        280        290        300 
QKAEREVSRM VVVMVGSFCV CYVPYAAFAM YMVNNRNHGL DLRLVTIPSF FSKSACIYNP 

       310        320        330        340 
IIYCFMNKQF QACIMKMVCG KAMTDESDTC SSQKTEVSTV SSTQVGPN 

« Hide

References

[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.
+Additional computationally mapped references.

Web resources

Mutations of the color pigment genes

Retina International's Scientific Newsletter

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M13299 expand/collapse EMBL AC list , 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.
CCDSCCDS5806.1.
PIROOHUB. A03156.
RefSeqNP_001699.1. NM_001708.2.
UniGeneHs.656404.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1KPNmodel-A1-348[»]
ProteinModelPortalP03999.
SMRP03999. Positions 9-341.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000249389.

Protein family/group databases

GPCRDBSearch...

Polymorphism databases

DMDM129203.

Proteomic databases

PaxDbP03999.
PRIDEP03999.

Protocols and materials databases

DNASU611.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000249389; ENSP00000249389; ENSG00000128617.
GeneID611.
KEGGhsa:611.
UCSCuc003vnt.4. human.

Organism-specific databases

CTD611.
GeneCardsGC07M128412.
H-InvDBHIX0167900.
HGNCHGNC:1012. OPN1SW.
MIM190900. phenotype.
613522. gene.
neXtProtNX_P03999.
Orphanet88629. Tritanopia.
PharmGKBPA31938.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG237118.
HOGENOMHOG000253932.
HOVERGENHBG107442.
InParanoidP03999.
KOK04252.
OMAYAALAMY.
OrthoDBEOG72NRQJ.
PhylomeDBP03999.
TreeFamTF324998.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.

Gene expression databases

ArrayExpressP03999.
BgeeP03999.
CleanExHS_OPN1SW.
GenevestigatorP03999.

Family and domain databases

Gene3D1.20.1070.10. 1 hit.
InterProIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001760. Opsin.
IPR001521. Opsin_blue.
IPR027430. Retinal_BS.
[Graphical view]
PfamPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSPR00237. GPCRRHODOPSN.
PR00238. OPSIN.
PR00574. OPSINBLUE.
PROSITEPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
PS00238. OPSIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiOPN1SW.
GenomeRNAi611.
NextBio2481.
PROP03999.
SOURCESearch...

Entry information

Entry nameOPSB_HUMAN
AccessionPrimary (citable) accession number: P03999
Secondary accession number(s): Q13877
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 1986
Last sequence update: October 23, 1986
Last modified: July 9, 2014
This is version 146 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

7-transmembrane G-linked receptors

List of 7-transmembrane G-linked receptor entries