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Aliases for OPN1SW Gene

Aliases for OPN1SW Gene

  • Opsin 1 (Cone Pigments), Short-Wave-Sensitive 2 3
  • Blue Cone Photoreceptor Pigment 2 3 4
  • Blue-Sensitive Opsin 2 3 4
  • BCP 3 4 6
  • CBT 3 6
  • BOP 3 4
  • Short-Wave-Sensitive Opsin 1 3
  • Color Blindness 2
  • Tritan 2

External Ids for OPN1SW Gene

Previous HGNC Symbols for OPN1SW Gene

  • BCP

Previous GeneCards Identifiers for OPN1SW Gene

  • GC07M126889
  • GC07M127952
  • GC07M127966
  • GC07M128006
  • GC07M128199
  • GC07M128412
  • GC07M122773

Summaries for OPN1SW Gene

Entrez Gene Summary for OPN1SW Gene

  • This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]

GeneCards Summary for OPN1SW Gene

OPN1SW (Opsin 1 (Cone Pigments), Short-Wave-Sensitive) is a Protein Coding gene. Diseases associated with OPN1SW include colorblindness, tritan and color blindness. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include G-protein coupled receptor activity and photoreceptor activity. An important paralog of this gene is RGR.

UniProtKB/Swiss-Prot for OPN1SW Gene

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

Gene Wiki entry for OPN1SW Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OPN1SW Gene

Genomics for OPN1SW Gene

Regulatory Elements for OPN1SW Gene

Genomic Location for OPN1SW Gene

Start:
128,772,489 bp from pter
End:
128,775,790 bp from pter
Size:
3,302 bases
Orientation:
Minus strand

Genomic View for OPN1SW Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OPN1SW Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OPN1SW Gene

Proteins for OPN1SW Gene

  • Protein details for OPN1SW Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P03999-OPSB_HUMAN
    Recommended name:
    Short-wave-sensitive opsin 1
    Protein Accession:
    P03999
    Secondary Accessions:
    • Q13877

    Protein attributes for OPN1SW Gene

    Size:
    348 amino acids
    Molecular mass:
    39135 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for OPN1SW Gene

neXtProt entry for OPN1SW Gene

Proteomics data for OPN1SW Gene at MOPED

Post-translational modifications for OPN1SW Gene

  • Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region
  • Glycosylation at Asn14
  • Modification sites at PhosphoSitePlus

Other Protein References for OPN1SW Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for OPN1SW Gene

Domains for OPN1SW Gene

Gene Families for OPN1SW Gene

HGNC:
  • OPN :GPCR / Class A : Opsin receptors

Protein Domains for OPN1SW Gene

Suggested Antigen Peptide Sequences for OPN1SW Gene

Graphical View of Domain Structure for InterPro Entry

P03999

UniProtKB/Swiss-Prot:

OPSB_HUMAN :
  • P03999
Family:
  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
genes like me logo Genes that share domains with OPN1SW: view

Function for OPN1SW Gene

Molecular function for OPN1SW Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Absorption: Abs(max)=420 nm;
UniProtKB/Swiss-Prot Function: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal

Gene Ontology (GO) - Molecular Function for OPN1SW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 2937147
GO:0004930 G-protein coupled receptor activity IEA --
GO:0009881 photoreceptor activity IEA --
genes like me logo Genes that share ontologies with OPN1SW: view
genes like me logo Genes that share phenotypes with OPN1SW: view

Animal Model Products

CRISPR Products

miRNA for OPN1SW Gene

miRTarBase miRNAs that target OPN1SW

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OPN1SW

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for OPN1SW Gene

Localization for OPN1SW Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPN1SW Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OPN1SW Gene COMPARTMENTS Subcellular localization image for OPN1SW gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for OPN1SW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment --
GO:0005887 integral component of plasma membrane TAS 9089077
GO:0016021 integral component of membrane --
GO:0042622 photoreceptor outer segment membrane TAS --
genes like me logo Genes that share ontologies with OPN1SW: view

Pathways for OPN1SW Gene

genes like me logo Genes that share pathways with OPN1SW: view

Pathways by source for OPN1SW Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for OPN1SW Gene

Gene Ontology (GO) - Biological Process for OPN1SW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0007165 signal transduction TAS 2937147
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007601 visual perception IEA --
GO:0007602 phototransduction TAS 9089077
genes like me logo Genes that share ontologies with OPN1SW: view

Compounds for OPN1SW Gene

(2) Novoseek inferred chemical compound relationships for OPN1SW Gene

Compound -log(P) Hits PubMed IDs
bacterioopsin 89.9 3
bacteriorhodopsin 81.4 4
genes like me logo Genes that share compounds with OPN1SW: view

Transcripts for OPN1SW Gene

mRNA/cDNA for OPN1SW Gene

(2) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OPN1SW Gene

Opsin 1 (cone pigments), short-wave-sensitive:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OPN1SW

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for OPN1SW

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for OPN1SW Gene

No ASD Table

Relevant External Links for OPN1SW Gene

GeneLoc Exon Structure for
OPN1SW
ECgene alternative splicing isoforms for
OPN1SW

Expression for OPN1SW Gene

mRNA expression in normal human tissues for OPN1SW Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for OPN1SW Gene

SOURCE GeneReport for Unigene cluster for OPN1SW Gene Hs.656404

mRNA Expression by UniProt/SwissProt for OPN1SW Gene

P03999-OPSB_HUMAN
Tissue specificity: The three color pigments are found in the cone photoreceptor cells
genes like me logo Genes that share expressions with OPN1SW: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for OPN1SW Gene

Orthologs for OPN1SW Gene

This gene was present in the common ancestor of chordates.

Orthologs for OPN1SW Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OPN1SW 35
  • 99.71 (n)
  • 100 (a)
OPN1SW 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OPN1SW 35
  • 88.12 (n)
  • 86.21 (a)
OPN1SW 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OPN1SW 35
  • 88.57 (n)
  • 88.76 (a)
OPN1SW 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Opn1sw 35
  • 86.98 (n)
  • 86.01 (a)
Opn1sw 16
Opn1sw 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OPN1SW 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Opn1sw 35
  • 86.88 (n)
  • 87.43 (a)
chicken
(Gallus gallus)
Aves PRA1 36
  • 46 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia OPN1SW 36
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia opn1sw-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia opn1sw 35
  • 70.41 (n)
  • 77.52 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11365 35
zebrafish
(Danio rerio)
Actinopterygii opn1sw1 35
  • 63.93 (n)
  • 62.92 (a)
opn1sw1 36
  • 61 (a)
OneToOne
opn1sw2 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
ManyToMany
CSA.11297 36
  • 32 (a)
ManyToMany
Species with no ortholog for OPN1SW:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OPN1SW Gene

ENSEMBL:
Gene Tree for OPN1SW (if available)
TreeFam:
Gene Tree for OPN1SW (if available)

Paralogs for OPN1SW Gene

Paralogs for OPN1SW Gene

Selected SIMAP similar genes for OPN1SW Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with OPN1SW: view

Variants for OPN1SW Gene

Sequence variations from dbSNP and Humsavar for OPN1SW Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs339038 -- 128,776,533(-) CTTCA(A/G)TGAAC upstream-variant-2KB
rs339039 -- 128,776,507(-) TGTGG(C/T)GACTT upstream-variant-2KB
rs339040 -- 128,775,183(-) CTGTC(C/T)AGCCC intron-variant
rs339041 -- 128,774,987(-) GGAGC(C/T)GGTGA reference, missense
rs762657 -- 128,774,710(-) CCCAC(C/T)GCACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OPN1SW Gene

Variant ID Type Subtype PubMed ID
esv2735137 CNV Deletion 23290073
esv2670312 CNV Deletion 23128226
nsv831125 CNV Loss 17160897
esv22837 CNV Gain 19812545

Relevant External Links for OPN1SW Gene

HapMap Linkage Disequilibrium report
OPN1SW
Human Gene Mutation Database (HGMD)
OPN1SW
Locus Specific Mutation Databases (LSDB)
OPN1SW

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OPN1SW Gene

Disorders for OPN1SW Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for OPN1SW Gene including...

Search for OPN1SW Gene in MalaCards »

(1) OMIM Diseases for OPN1SW Gene (613522)

UniProtKB/Swiss-Prot

OPSB_HUMAN
  • Tritan color blindness (CBT) [MIM:190900]: A disorder of vision characterized by a selective deficiency of blue spectral sensitivity. {ECO:0000269 PubMed:1386496, ECO:0000269 PubMed:1531728}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for OPN1SW

Genetic Association Database (GAD)
OPN1SW
Human Genome Epidemiology (HuGE) Navigator
OPN1SW
genes like me logo Genes that share disorders with OPN1SW: view

Publications for OPN1SW Gene

  1. Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32. (PMID: 8270261) Fitzgibbon J. … Hunt D.M. (Hum. Genet. 1994) 2 3 23
  2. Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. (PMID: 1531728) Weitz C.J. … Nathans J. (Am. J. Hum. Genet. 1992) 3 4 48
  3. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. (PMID: 2937147) Nathans J. … Hogness D.S. (Science 1986) 2 3 4
  4. Molecular biology of the visual pigments. (PMID: 3303660) Applebury M.L. … Hargrave P.A. (Vision Res. 1986) 3 4
  5. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij J.C. … Florijn R.J. (Ophthalmology 2011) 3 48

Products for OPN1SW Gene

Sources for OPN1SW Gene

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