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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 Colorblindness, Protan and Blue Cone Monochromacy. Among its related pathways are HIV Life Cycle and Metabolism of fat-soluble vitamins. GO annotations related to this gene include G-protein coupled receptor activity and photoreceptor activity. An important paralog of this gene is OPN1MW.

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

Regulatory Elements for OPN1LW Gene

Enhancers for OPN1LW 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
GH0XH154171 0.4 Ensembl 0.3 +28.7 28677 2 FOS TEX28P2 OPN1LW
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OPN1LW on UCSC Golden Path with GeneCards custom track

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

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 posLast=3434

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

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

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.

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 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0008020 G-protein coupled photoreceptor activity IBA --
GO:0009881 photoreceptor activity TAS,IMP 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

CRISPR Products

miRNA for OPN1LW Gene

miRTarBase miRNAs that target OPN1LW

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for OPN1LW
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
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

Activates:

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 --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for OPN1LW
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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:

OPN1LW

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.

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

Primer 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 33 34
  • 98.53 (n)
dog
(Canis familiaris)
Mammalia OPN1LW 33 34
  • 88.55 (n)
cow
(Bos Taurus)
Mammalia OPN1LW 33 34
  • 88.28 (n)
mouse
(Mus musculus)
Mammalia Opn1mw 33 16 34
  • 86.83 (n)
rat
(Rattus norvegicus)
Mammalia Opn1mw 33
  • 86.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OPN1LW 34
  • 85 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia OPN1LW 34
  • 82 (a)
OneToMany
chicken
(Gallus gallus)
Aves OPN1LW 33
  • 78.8 (n)
TCTN3 34
  • 38 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia opn1lw 33
  • 71.29 (n)
Str.13786 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.31870 33
zebrafish
(Danio rerio)
Actinopterygii opn1lw2 34
  • 78 (a)
ManyToMany
opn1lw1 33 34
  • 74.1 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11366 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11297 34
  • 38 (a)
ManyToMany
-- 34
  • 37 (a)
ManyToMany
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

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
VAR_009298 Blue cone monochromacy (BCM) [MIM:303700]
VAR_009299 Blue cone monochromacy (BCM) [MIM:303700]
VAR_064054 Colorblindness, partial, protan series (CBP) [MIM:303900]
rs104894912 Pathogenic 154,154,734(+) CCATC(C/T)GAGCG reference, stop-gained
rs104894913 Pathogenic 154,158,844(+) TTTCG(A/G)GAAGA reference, missense

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)

Relevant External Links for OPN1LW Gene

Human Gene Mutation Database (HGMD)
OPN1LW
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OPN1LW

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

Disorders for OPN1LW Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
colorblindness, protan
  • protanopia
blue cone monochromacy
  • blue cone monochromatism
red color blindness
  • protan defect
red-green color vision defects
  • color blindness
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

OPSR_HUMAN
  • 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.
  • 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.

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 JC … Florijn RJ (Ophthalmology 2011) 3 45 60
  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 45 60
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 60
  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 60
  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 60

Products for OPN1LW Gene

Sources for OPN1LW Gene

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