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Aliases for OPN1SW Gene

Aliases for OPN1SW Gene

  • Opsin 1 (Cone Pigments), Short-Wave-Sensitive 2 3 5
  • Blue Cone Photoreceptor Pigment 2 3 4
  • Blue-Sensitive Opsin 2 3 4
  • BOP 3 4
  • BCP 3 4
  • Short-Wave-Sensitive Opsin 1 3
  • Color Blindness, Tritan 2
  • CBT 3

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 Metabolism of fat-soluble vitamins and Signaling by GPCR. GO annotations related to this gene include G-protein coupled receptor activity and photoreceptor activity. An important paralog of this gene is RHO.

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

Enhancers for OPN1SW Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F128737 0.9 Ensembl ENCODE 28.8 +35.1 35088 6.6 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 OPN1SW FAM71F2 ENSG00000242162 CYCSP20 LOC100196944 ENSG00000243230 CALU SMO ENSG00000243679 ENSG00000230715
GH07F128754 0.2 ENCODE 17.3 +19.8 19832 3.2 CTCF ZNF362 SIN3A HIC1 JUND ZNF316 POLR2A FOS FOXP2 OPN1SW CALU CCDC136 IMP3P2 FAM71F2 ENSG00000241493 FLNC FAM71F1 RN7SL81P
GH07F128858 1.4 Ensembl ENCODE 16.1 -84.2 -84248 3.0 HDGF PKNOX1 ARNT SIN3A YBX1 CBX5 GATA2 KDM4B NCOA1 ZNF623 CCDC136 OPN1SW ENSG00000243230 SMO FLNC RBM28 IMP3P2 ENSG00000241493 FAM71F2 LOC392787
GH07F128800 0.2 ENCODE 11.8 -25.3 -25308 0.9 JUNB OPN1SW FLNC ATP6V1F ENSG00000242902 CALU IMP3P2 FAM71F2 ENSG00000241493 FAM71F1 CCDC136
GH07F128814 0.5 ENCODE 11.8 -39.1 -39107 1.1 HDGF ATF1 PKNOX1 ARNT YY1 ZNF766 GATA2 KDM4B ZNF263 TBX21 CCDC136 OPN1SW ATP6V1F ENSG00000242902 IMP3P2 FAM71F2 ENSG00000241493 FAM71F1 CALU GC07P128820
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around OPN1SW on UCSC Golden Path with GeneCards custom track

Genomic Location for OPN1SW Gene

Chromosome:
7
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

Genes around OPN1SW on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OPN1SW Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 Asn 14
  • Modification sites at PhosphoSitePlus

Other Protein References for OPN1SW Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OPN1SW Gene

Domains & Families for OPN1SW Gene

Gene Families for OPN1SW Gene

Suggested Antigen Peptide Sequences for OPN1SW Gene

Graphical View of Domain Structure for InterPro Entry

P03999

UniProtKB/Swiss-Prot:

OPSB_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
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:0004871 signal transducer activity IEA --
GO:0004872 receptor activity TAS 2937147
GO:0004930 G-protein coupled receptor activity IEA --
GO:0008020 G-protein coupled photoreceptor activity IBA --
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

Human Phenotype Ontology for OPN1SW Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for OPN1SW Gene

miRTarBase miRNAs that target OPN1SW

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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 5
chloroplast 1

Gene Ontology (GO) - Cellular Components for OPN1SW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IBA --
GO:0005887 integral component of plasma membrane TAS 9089077
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0042622 photoreceptor outer segment membrane TAS --
genes like me logo Genes that share ontologies with OPN1SW: view

Pathways & Interactions for OPN1SW Gene

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

Interacting Proteins for OPN1SW Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000249389%0d%0a9606.ENSP00000296271%0d%0a9606.ENSP00000334448%0d%0a9606.ENSP00000268125%0d%0a9606.ENSP00000365397%0d%0a9606.ENSP00000367869%0d%0a
Selected Interacting proteins: ENSP00000249389 P03999-OPSB_HUMAN for OPN1SW Gene via STRING IID

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 IEA,TAS 2937147
GO:0007186 G-protein coupled receptor signaling pathway IBA --
GO:0007601 visual perception IEA --
GO:0007602 phototransduction IEA --
genes like me logo Genes that share ontologies with OPN1SW: view

No data available for SIGNOR curated interactions for OPN1SW Gene

Drugs & Compounds for OPN1SW Gene

(2) Additional Compounds for OPN1SW Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with OPN1SW: view

Transcripts for OPN1SW Gene

mRNA/cDNA for OPN1SW Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and SAGE for OPN1SW Gene

Protein differential expression in normal tissues from HIPED for OPN1SW Gene

This gene is overexpressed in Retina (48.4) and Platelet (20.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for OPN1SW Gene



Protein tissue co-expression partners for OPN1SW Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OPN1SW Gene:

OPN1SW

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 expression patterns with OPN1SW: view

Primer 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 34 35
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia OPN1SW 34 35
  • 88.57 (n)
cow
(Bos Taurus)
Mammalia OPN1SW 34 35
  • 88.12 (n)
mouse
(Mus musculus)
Mammalia Opn1sw 34 16 35
  • 86.98 (n)
rat
(Rattus norvegicus)
Mammalia Opn1sw 34
  • 86.88 (n)
oppossum
(Monodelphis domestica)
Mammalia OPN1SW 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRA1 35
  • 46 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia OPN1SW 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia opn1sw 34
  • 70.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia opn1sw-A 34
zebrafish
(Danio rerio)
Actinopterygii opn1sw1 34 35
  • 63.93 (n)
opn1sw2 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11365 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11297 35
  • 32 (a)
ManyToMany
-- 35
  • 31 (a)
ManyToMany
Species where no ortholog for OPN1SW was found in the sources mined by GeneCards:
  • 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

(5) 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
rs104894031 Pathogenic, Tritan color blindness (CBT) [MIM:190900] 128,775,556(-) CCTTC(A/G)GAGGC reference, missense
rs104894032 Pathogenic, Tritan color blindness (CBT) [MIM:190900] 128,774,545(-) CTCTC(C/G/T)CCCTC reference, missense
rs104894033 Pathogenic, Tritan color blindness (CBT) [MIM:190900] 128,773,786(-) ACGTG(C/T)CCTAC downstream-variant-500B, reference, missense
rs10232905 -- 128,777,315(+) gacag(A/G)ggaca upstream-variant-2KB
rs10232909 -- 128,777,323(+) acagg(A/G)gacag upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv22837 CNV gain 19812545
esv2670312 CNV deletion 23128226
esv2735137 CNV deletion 23290073
nsv831125 CNV loss 17160897

Variation tolerance for OPN1SW Gene

Residual Variation Intolerance Score: 66.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.75; 33.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OPN1SW Gene

Human Gene Mutation Database (HGMD)
OPN1SW
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OPN1SW

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

Disorders for OPN1SW Gene

MalaCards: The human disease database

(3) MalaCards diseases for OPN1SW Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
colorblindness, tritan
  • tritanopia
color blindness
  • blindness color
achromatopsia
  • achm
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OPN1SW
genes like me logo Genes that share disorders with OPN1SW: view

No data available for Genatlas for OPN1SW Gene

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 22 64
  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 46 64
  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 64
  4. 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 46 64
  5. Sequences and evolution of human and squirrel monkey blue opsin genes. (PMID: 9089077) Shimmin L.C. … Li W.H. (J. Mol. Evol. 1997) 3 4 64

Products for OPN1SW Gene

Sources for OPN1SW Gene

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