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Aliases for OPN1LW Gene

Aliases for OPN1LW Gene

  • Opsin 1, Long Wave Sensitive 2 3 5
  • Red Cone Photoreceptor Pigment 2 3 4
  • Opsin 1 (Cone Pigments), Long-Wave-Sensitive 2 3
  • Cone Dystrophy 5 (X-Linked) 2 3
  • Red-Sensitive Opsin 3 4
  • RCP 3 4
  • ROP 3 4
  • Long-Wave-Sensitive Opsin 1 3
  • 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, Long Wave Sensitive) is a Protein Coding gene. Diseases associated with OPN1LW include Blue Cone Monochromacy and Colorblindness, Partial, Protan Series. Among its related pathways are Metabolism of fat-soluble vitamins and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and photoreceptor activity. An important paralog of this gene is OPN1MW2.

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

Additional gene information for OPN1LW Gene

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

Genomics for OPN1LW Gene

GeneHancer (GH) Regulatory Elements for OPN1LW Gene

Promoters and enhancers for OPN1LW Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ154144 Promoter 0.6 EPDnew 650.7 0.0 0 0.1 ZBTB33 OPN1LW MECP2
GH0XJ154171 Enhancer 0.3 Ensembl 0.3 +28.7 28677 2.6 FOS TEX28P2 OPN1LW
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OPN1LW on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OPN1LW gene promoter:
  • C/EBPalpha
  • Sp1
  • GATA-1
  • Evi-1
  • AML1a

Genomic Locations for OPN1LW Gene

Genomic Locations for OPN1LW Gene
14,809 bases
Plus strand
14,810 bases
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:
    Recommended name:
    Long-wave-sensitive opsin 1
    Protein Accession:

    Protein attributes for OPN1LW Gene

    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

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 isoforms=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

Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for OPN1LW Gene

Suggested Antigen Peptide Sequences for OPN1LW Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
  • 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 Function:
Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Absorption: Abs(max)=560 nm;

Phenotypes From GWAS Catalog for OPN1LW Gene

Gene Ontology (GO) - Molecular Function for OPN1LW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 obsolete signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0008020 G-protein coupled photoreceptor activity IBA --
GO:0009881 photoreceptor activity IMP,TAS 8185948
genes like me logo Genes that share ontologies with OPN1LW: view
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

miRNA for OPN1LW Gene

miRTarBase miRNAs that target OPN1LW

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OPN1LW gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1
endosome 1

Gene Ontology (GO) - Cellular Components for OPN1LW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IBA --
GO:0005887 integral component of plasma membrane TAS 9860863
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0097381 photoreceptor disc membrane TAS --
genes like me logo Genes that share ontologies with OPN1LW: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OPN1LW Gene

Pathways & Interactions for OPN1LW Gene

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

SIGNOR curated interactions for OPN1LW Gene


Gene Ontology (GO) - Biological Process for OPN1LW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0007165 signal transduction TAS,IEA 2937147
GO:0007186 G-protein coupled receptor signaling pathway IEA,TAS --
GO:0007601 visual perception IEA --
GO:0007602 phototransduction IEA --
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:

Clone Products

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

No ASD Table

Relevant External Links for OPN1LW Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OPN1LW Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of OPN1LW Gene:


SOURCE GeneReport for Unigene cluster for OPN1LW Gene:


mRNA Expression by UniProt/SwissProt for OPN1LW Gene:

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

Evidence on tissue expression from TISSUES for OPN1LW Gene

  • Eye(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OPN1LW Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • pituitary gland
  • breast
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with OPN1LW: view

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
(Pan troglodytes)
Mammalia OPN1LW 34 33
  • 98.53 (n)
(Canis familiaris)
Mammalia OPN1LW 34 33
  • 88.55 (n)
(Bos Taurus)
Mammalia OPN1LW 34 33
  • 88.28 (n)
(Mus musculus)
Mammalia Opn1mw 16 34 33
  • 86.83 (n)
(Rattus norvegicus)
Mammalia Opn1mw 33
  • 86.18 (n)
(Ornithorhynchus anatinus)
Mammalia OPN1LW 34
  • 85 (a)
(Monodelphis domestica)
Mammalia OPN1LW 34
  • 82 (a)
(Gallus gallus)
Aves OPN1LW 33
  • 78.8 (n)
TCTN3 34
  • 38 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia opn1lw 33
  • 71.29 (n)
Str.13786 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.31870 33
(Danio rerio)
Actinopterygii opn1lw2 34
  • 78 (a)
opn1lw1 34 33 33
  • 74.1 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11366 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11297 34
  • 38 (a)
-- 34
  • 37 (a)
Species where no ortholog for OPN1LW 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)
  • 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

Gene Tree for OPN1LW (if available)
Gene Tree for OPN1LW (if available)
Evolutionary constrained regions (ECRs) for OPN1LW: view image

Paralogs for OPN1LW Gene

Paralogs for OPN1LW Gene

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

  • B1B1F0_HUMAN
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 Variation AA Info Type
rs104894912 pathogenic, Cone monochromatism 154,154,734(+) C/T coding_sequence_variant, stop_gained
rs104894913 pathogenic, Protan defect 154,158,844(+) G/A coding_sequence_variant, missense_variant
rs121434621 pathogenic, Cone monochromatism, not provided 154,154,602(+) T/C coding_sequence_variant, missense_variant
VAR_009298 Blue cone monochromacy (BCM) [MIM:303700] p.Cys203Arg
VAR_009299 Blue cone monochromacy (BCM) [MIM:303700] p.Pro307Leu

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

Variant ID Type Subtype PubMed ID
dgv2536e212 CNV gain 25503493
dgv2537e212 CNV gain 25503493
dgv2538e212 CNV loss 25503493
esv27518 CNV gain+loss 19812545
esv33199 CNV gain+loss 17666407
esv3352313 CNV duplication 20981092
esv33784 CNV gain+loss 17666407
esv3434780 CNV duplication 20981092
esv3575029 CNV loss 25503493
esv3577543 CNV gain 25503493
esv3577546 CNV gain 25503493
nsv1075344 CNV deletion 25765185
nsv515186 CNV gain 21397061
nsv519042 CNV gain 19592680
nsv7161 CNV deletion 18451855

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)

Additional Variant Information for OPN1LW Gene

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

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

Disorders for OPN1LW Gene

MalaCards: The human disease database

(10) MalaCards diseases for OPN1LW Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
blue cone monochromacy
  • bcm
colorblindness, partial, protan series
  • cbp
retinitis pigmentosa
  • retinitis pigmentosa 1
color blindness
  • blindness color
red-green color blindness
  • colorblindness, partial, deutan series
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Additional Disease Information for OPN1LW

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JC … Florijn RJ (Ophthalmology 2011) 3 44 58
  2. Genetic variation in osteopontin gene is associated with susceptibility to sarcoidosis in Slovenian population. (PMID: 20075512) Maver A … Peterlin B (Disease markers 2009) 3 44 58
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
  4. Signatures of selection and gene conversion associated with human color vision variation. (PMID: 15252758) Verrelli BC … Tishkoff SA (American journal of human genetics 2004) 3 22 58
  5. Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. (PMID: 12051694) Ueyama H … Yamade S (Biochemical and biophysical research communications 2002) 3 4 58

Products for OPN1LW Gene

Sources for OPN1LW Gene

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