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Aliases for OPN1LW Gene

Aliases for OPN1LW Gene

  • Opsin 1 (Cone Pigments), Long-Wave-Sensitive 2 3 5
  • Red Cone Photoreceptor Pigment 2 3 4
  • Cone Dystrophy 5 (X-Linked) 2 3
  • Red-Sensitive Opsin 3 4
  • RCP 3 4
  • ROP 3 4
  • Color Blindness, Protan 2
  • Red Cone Opsin 3
  • COD5 3
  • CBBM 3
  • CBP 3

External Ids for OPN1LW Gene

Previous HGNC Symbols for OPN1LW Gene

  • CBBM
  • RCP
  • CBP

Previous GeneCards Identifiers for OPN1LW Gene

  • GC0XP147547
  • GC0XP149864
  • GC0XP150995
  • GC0XP151916
  • GC0XP151877
  • GC0XP152930
  • GC0XP153062
  • GC0XP153409
  • GC0XP142061

Summaries for OPN1LW Gene

Entrez Gene Summary for OPN1LW Gene

  • This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [provided by RefSeq, Jul 2008]

GeneCards Summary for OPN1LW Gene

OPN1LW (Opsin 1 (Cone Pigments), Long-Wave-Sensitive) is a Protein Coding gene. Diseases associated with OPN1LW include colorblindness, protan and blue cone monochromacy. Among its related pathways are Signaling by GPCR and Infectious disease. GO annotations related to this gene include G-protein coupled receptor activity and photoreceptor activity. An important paralog of this gene is OPN1SW.

UniProtKB/Swiss-Prot for OPN1LW 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 OPN1LW Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OPN1LW Gene

Genomics for OPN1LW Gene

Regulatory Elements for OPN1LW Gene

Genomic Location for OPN1LW Gene

Chromosome:
X
Start:
154,144,224 bp from pter
End:
154,159,032 bp from pter
Size:
14,809 bases
Orientation:
Plus strand

Genomic View for OPN1LW Gene

Genes around OPN1LW on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OPN1LW Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OPN1LW Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OPN1LW Gene

Proteins for OPN1LW Gene

  • Protein details for OPN1LW Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04000-OPSR_HUMAN
    Recommended name:
    Long-wave-sensitive opsin 1
    Protein Accession:
    P04000

    Protein attributes for OPN1LW Gene

    Size:
    364 amino acids
    Molecular mass:
    40572 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for OPN1LW Gene

neXtProt entry for OPN1LW Gene

Proteomics data for OPN1LW Gene at MOPED

Post-translational modifications for OPN1LW Gene

  • Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.
  • Glycosylation at Asn 34

Other Protein References for OPN1LW Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OPN1LW Gene

Domains & Families for OPN1LW Gene

Gene Families for OPN1LW Gene

Protein Domains for OPN1LW Gene

Suggested Antigen Peptide Sequences for OPN1LW Gene

Graphical View of Domain Structure for InterPro Entry

P04000

UniProtKB/Swiss-Prot:

OPSR_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 OPN1LW: view

Function for OPN1LW Gene

Molecular function for OPN1LW Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Absorption: Abs(max)=560 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.
genes like me logo Genes that share phenotypes with OPN1LW: view

Human Phenotype Ontology for OPN1LW Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for OPN1LW Gene

miRTarBase miRNAs that target OPN1LW

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for OPN1LW Gene

Localization for OPN1LW Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPN1LW Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OPN1LW Gene COMPARTMENTS Subcellular localization image for OPN1LW gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1
endosome 1

No data available for Gene Ontology (GO) - Cellular Components for OPN1LW Gene

Pathways & Interactions for OPN1LW Gene

genes like me logo Genes that share pathways with OPN1LW: view

Pathways by source for OPN1LW Gene

1 BioSystems pathway for OPN1LW Gene

SIGNOR curated interactions for OPN1LW Gene

Activates:

Gene Ontology (GO) - Biological Process for OPN1LW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G-protein coupled receptor signaling pathway IEA,IBA --
GO:0007601 visual perception IEA --
GO:0032467 positive regulation of cytokinesis IMP 22888021
GO:0071482 cellular response to light stimulus IBA --
genes like me logo Genes that share ontologies with OPN1LW: view

Drugs & Compounds for OPN1LW Gene

(2) Drugs for OPN1LW Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with OPN1LW: view

Transcripts for OPN1LW Gene

mRNA/cDNA for OPN1LW Gene

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

Unigene Clusters for OPN1LW Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for OPN1LW Gene

No ASD Table

Relevant External Links for OPN1LW Gene

GeneLoc Exon Structure for
OPN1LW
ECgene alternative splicing isoforms for
OPN1LW

Expression for OPN1LW Gene

mRNA expression in normal human tissues for OPN1LW Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OPN1LW Gene

This gene is overexpressed in Testis (x11.4), Skin - Sun Exposed (Lower leg) (x5.3), Skin - Not Sun Exposed (Suprapubic) (x5.1), and Fallopian Tube (x4.6).

SOURCE GeneReport for Unigene cluster for OPN1LW Gene Hs.592247

mRNA Expression by UniProt/SwissProt for OPN1LW Gene

P04000-OPSR_HUMAN
Tissue specificity: The three color pigments are found in the cone photoreceptor cells.
genes like me logo Genes that share expression patterns with OPN1LW: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for OPN1LW Gene

Orthologs for OPN1LW Gene

This gene was present in the common ancestor of chordates.

Orthologs for OPN1LW Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OPN1LW 35
  • 98.53 (n)
  • 98.08 (a)
OPN1LW 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OPN1LW 36
  • 89 (a)
OneToMany
OPN1LW 35
  • 88.28 (n)
  • 89.84 (a)
dog
(Canis familiaris)
Mammalia OPN1LW 35
  • 88.55 (n)
  • 89.29 (a)
OPN1LW 36
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Opn1mw 36
  • 88 (a)
OneToMany
Opn1mw 16
Opn1mw 35
  • 86.83 (n)
  • 88.24 (a)
oppossum
(Monodelphis domestica)
Mammalia OPN1LW 36
  • 82 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia OPN1LW 36
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Opn1mw 35
  • 86.18 (n)
  • 89.08 (a)
chicken
(Gallus gallus)
Aves TCTN3 36
  • 38 (a)
ManyToMany
OPN1LW 35
  • 78.8 (n)
  • 86.98 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 82 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.31870 35
tropical clawed frog
(Silurana tropicalis)
Amphibia opn1lw 35
  • 71.29 (n)
  • 79.89 (a)
Str.13786 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11366 35
zebrafish
(Danio rerio)
Actinopterygii opn1lw1 36
  • 79 (a)
ManyToMany
opn1lw2 36
  • 78 (a)
ManyToMany
opn1lw1 35
  • 74.1 (n)
  • 79.14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
ManyToMany
CSA.11297 36
  • 38 (a)
ManyToMany
Species with no ortholog for OPN1LW:
  • 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)
  • 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 OPN1LW Gene

ENSEMBL:
Gene Tree for OPN1LW (if available)
TreeFam:
Gene Tree for OPN1LW (if available)

Paralogs for OPN1LW Gene

Paralogs for OPN1LW Gene

(7) SIMAP similar genes for OPN1LW Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with OPN1LW: view

Variants for OPN1LW Gene

Sequence variations from dbSNP and Humsavar for OPN1LW Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs949431 - 154,153,068(+) TCTGG(G/T)CTGCT reference, missense
VAR_009298 Blue cone monochromacy (BCM)
VAR_009299 Blue cone monochromacy (BCM)
VAR_012009 -
VAR_012010 -

Structural Variations from Database of Genomic Variants (DGV) for OPN1LW Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv33784 CNV Gain+Loss 17666407
nsv519042 CNV Gain 19592680
nsv7161 CNV Loss 18451855
esv27518 CNV Gain+Loss 19812545
nsv515186 CNV Complex 21397061

Variation tolerance for OPN1LW Gene

Residual Variation Intolerance Score: 89.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.98; 59.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OPN1LW Gene

HapMap Linkage Disequilibrium report
OPN1LW
Human Gene Mutation Database (HGMD)
OPN1LW

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OPN1LW Gene

Disorders for OPN1LW Gene

MalaCards: The human disease database

(11) MalaCards diseases for OPN1LW Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
colorblindness, protan
  • protanopia
blue cone monochromacy
  • blue cone monochromatism
colorblindness, deutan
  • deuteranopia
rubinstein-taybi syndrome
  • broad thumb-hallux syndrome
red-green color vision defects
  • color blindness
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

OPSR_HUMAN
  • Colorblindness, partial, protan series (CBP) [MIM:303900]: A color vision defect characterized by a dichromasy in which red and green are confused, with loss of luminance and shift of brightness and hue curves toward the short wave end of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia. {ECO:0000269 PubMed:12051694}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Blue cone monochromacy (BCM) [MIM:303700]: A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia. {ECO:0000269 PubMed:8213841, ECO:0000269 PubMed:8666378}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for OPN1LW

Genetic Association Database (GAD)
OPN1LW
Human Genome Epidemiology (HuGE) Navigator
OPN1LW
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OPN1LW
genes like me logo Genes that share disorders with OPN1LW: view

No data available for Genatlas for OPN1LW Gene

Publications for OPN1LW Gene

  1. 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 67
  2. Signatures of selection and gene conversion associated with human color vision variation. (PMID: 15252758) Verrelli B.C. … Tishkoff S.A. (Am. J. Hum. Genet. 2004) 3 23
  3. Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1. (PMID: 26114493) Li J. … Zhang Q. (Invest. Ophthalmol. Vis. Sci. 2015) 3
  4. Blue cone monochromatism in a female due to skewed X-inactivation. (PMID: 22998501) Frederiksen A.L. … Welinder L.G. (Ophthalmic Genet. 2013) 3
  5. Enhancer/promoter activities of the long/middle wavelength-sensitive opsins of vertebrates mediated by thyroid hormone receptor I^2 and COUP-TFII. (PMID: 24058409) Iwagawa T. … Watanabe S. (PLoS ONE 2013) 3

Products for OPN1LW Gene

Sources for OPN1LW Gene

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