OPN1LW Gene
protein-coding GIFtS : 49
GC0XP142061
opsin 1 (cone pigments), long-wave-sensitive (Previous names: color blindness, protan, red cone photoreceptor pigment )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbols: CBBM, RCP, CBP )
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Aliases & Descriptionsfor OPN1LW gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section Aliases & Descriptions opsin 1 (cone pigments), long-wave-sensitive1 2 color blindness, protan1 Red cone photoreceptor pigment1 2 3 CBP2 COD51 2 long-wave-sensitive opsin 12 Red-sensitive opsin2 3 cone dystrophy 5 (X-linked)2 ROP2 3 CBBM2 RCP2 3
Export aliases for OPN1LW gene to outside databases Previous GC identifers: GC0XP147547 GC0XP149864 GC0XP150995 GC0XP151916 GC0XP151877 GC0XP152930 GC0XP153062 GC0XP153409
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Summariesfor OPN1LW gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for OPN1LW : 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) UniProtKB/Swiss-Prot: OPSR_HUMAN, P04000 Function : 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
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Genomic Viewsfor OPN1LW gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the OPN1LW gene promoter: GATA-1 C/EBPalpha SRF FOXO4 STAT1alpha STAT1beta IRF-1 STAT1 Sp1 p300 Other transcription factors Search SABiosciences Chromatin IP Primers for OPN1LW Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28 OPN1LW Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XP142061: view genomic region
(about GC identifiers )
Start:
142,061,320 bp from pter
End:
142,074,959 bp from pter
Size:
13,640 bases
Orientation:
plus strand
1 alternative location : Chr X+ 153,409,698-153,424,507
RefSeq DNA sequence: NC_000023.10 NT_167198.1
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Proteinsfor OPN1LW gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
About This Section UniProtKB/Swiss-Prot: OPSR_HUMAN, P04000 (See
protein sequence )Recommended Name: Long-wave-sensitive opsin 1 Size : 364 amino acids; 40572 Da
Subcellular location : Membrane; Multi-pass membrane protein
PDB structures from and Proteopedia : 1KPX (3D)
 Explore the universe of human proteins at neXtProt for OPN1LW: NX_P04000 Post-translational modifications:
Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region1
REFSEQ proteins: NP_064445.1 ENSEMBL proteins: ENSP00000358967 ENSP00000402493 Human Recombinant Proteins 4 Gene Ontology (GO) cellular component terms (GO ID links to tree view) :
About this table
OPN1LW for ontologies About GeneDecksing Antibodies for OPN1LW: Assays for OPN1LW:
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Protein
Domains/ Familiesfor OPN1LW gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
OPN1LW for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P04000 ProtoNet protein and cluster: P04000
2 Blocks protein families : IPB000378 Red/green-sensitive opsin signature IPB001760 Opsin UniProtKB/Swiss-Prot: OPSR_HUMAN, P04000 Similarity : Belongs to the G-protein coupled receptor 1 family. Opsin subfamily
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Gene Functionfor OPN1LW gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: OPSR_HUMAN, P04000 Function : Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin,covalently linked to cis-retinal Biophysicochemical properties : Absorption: Abs(max)=560 nm;
2 Gene Ontology (GO) molecular function terms (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0004930 G-protein coupled receptor activity
IEA -- GO:0009881 photoreceptor activity
IEA --
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OPN1LW for ontologies About GeneDecksing
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Pathways & Interactionsfor OPN1LW gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section
OPN1LW for pathways About GeneDecksing 1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for OPN1LW SABiosciences Custom Pathway-Focused PCR Arrays for OPN1LW Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for OPN1LW SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for OPN1LW 5/6 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 6 ):
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OPN1LW for ontologies About GeneDecksing
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Drugs & Compoundsfor OPN1LW gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
About This Section
OPN1LW for compounds About GeneDecksing Browse Tocris compounds for OPN1LW 2 Novoseek chemical compound relationships for OPN1LW gene
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Transcriptsfor OPN1LW gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for OPN1LW gene: NM_020061.4
Additional cDNA sequence: CR749814.1
1 DOTS entry : DT.436489
24/28 AceView cDNA sequences (see all 28 ):
BQ637240 NM_020061 BQ638605 BV181234 BV167401 BV167405 BV183299 BQ639996 AW950066 BV181233 BV181076 BV183301 BV167403 BV167402 BV183302 T27896 BV182704 BV182703 BQ638223 BV183303 BV183300 BV167404 BM704021 CR749814
highest scoring ESTs for OPN1LW :AW950066 BM688032 BM704021 CR749814 NM_020061 T27896 BQ637240 DN693335 BM695482 W21948 Unigene Cluster for OPN1LW:
Opsin 1 (cone pigments), long-wave-sensitive Hs.592247 [show with all ESTs ] Unigene Representative Sequence: CR749814 GeneLoc Exon Structure 3 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000369951 (uc004fjz.3 ) ENST00000463296 ENST00000442922
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Expression for OPN1LW gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section OPN1LW expression in normal and diseased human tissues 1 / 2 / 3
2 probe-sets matching OPN1LW gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
221327_s_at2 , 3
U133-A
3
1.00
0.46
--
--
NM_000513
0.20
0.33
0.27
2
221327_s_at2
U133Plus2
3
1.00
0.46
--
--
--
--
--
--
--
About this table Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.592247 UniProtKB/Swiss-Prot: OPSR_HUMAN, P04000 Tissue specificity : The three color pigments are found in the cone photoreceptor cells
SABiosciences Custom PCR Arrays for OPN1LW
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Orthologsfor OPN1LW gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for OPN1LW gene from 5/9 species (see all 9 )
About this table Species with no ortholog for OPN1LW ENSEMBL Gene Tree for OPN1LW (if available)
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Paralogsfor OPN1LW gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section Paralogs for OPN1LW gene OPN3 2 OPN1MW 2 OPN1SW 2 RGR 2 RHO 2 OPN1MW2 2
OPN1LW for paralogs About GeneDecksing
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Genomic Variantsfor OPN1LW gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr X pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for OPN1LW (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for OPN1LW 3 CNVs : 97108 83868 74085
QIAGEN SeqTarget long-range PCR primers for resequencing OPN1LW
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Disorders & Mutationsfor OPN1LW gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
OPN1LW for disorders About GeneDecksing
OMIM: 300822 UniProtKB/Swiss-Prot: OPSR_HUMAN, P04000
Defects in OPN1LW are the cause of partial colorblindness protan series (CBP) [MIM:303900]; also known as protanopia GeneTests: OPN1LW Red-Green Color Vision Defects Locus Specific Mutation Databases (LSDB): OPN1LW Human Gene Mutation Database (HGMD) : OPN1LW Human Genome Epidemiology (HuGE) Navigator: OPN1LW (3 documents) Export disorders and mutations for OPN1LW gene to outside databases
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Medical Newsfor OPN1LW gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor OPN1LW gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/47 PubMed articles for OPN1LW gene, integrated from 7 sources (see all 47 ): (articles sorted by number of sources associating them with OPN1LW) The DNA sequence of the human X chromosome. (PubMed id 15772651) 1 , 2 Ross M.T.... Bentley D.R. (2005) Genetic heterogeneity among blue-cone monochromats. (PubMed id 8213841) 1 , 2 Nathans J.... Heckenlively J.R. (1993) Polymorphism in red photopigment underlies variation in colour matching. (PubMed id 1557123) 1 , 2 Winderickx J....Deeb S.S. (1992) Molecular biology of the visual pigments. (PubMed id 3303660) 1 , 2 Applebury M.L. and Hargrave P.A. (1986) Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. (PubMed id 2937147) 1 , 2 Nathans J.... Hogness D.S. (1986) Signatures of selection and gene conversion associated with human color vision variation. (PubMed id 15252758) 1 , 7 Verrelli B.C. and Tishkoff S.A. (2004) Cyclooxygenase-2 gene promoter polymorphisms affect s usceptibility to hepatitis C virus infection and disease progression. (PubMed id 20880066) 1 Sakaki M....Imawari M. (2010) Variable retinal phenotypes caused by mutations in th e X-linked photopigment gene array. (PubMed id 20220053) 1 Mizrahi-Meissonnier L....Sharon D. (2010) Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. (PubMed id 20801516) 1 Booij J.C....Florijn R.J. (2010 Aug 27) X-linked cone dystrophy caused by mutation of the red and green cone opsins. (PubMed id 20579627) 1 Gardner J.C....Hardcastle A.J. (2010)
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External Searches for OPN1LW gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing OPN1LW gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing OPN1LW gene
(According to HUGE )
About This Section --
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Specialized Databases showing OPN1LW gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
Mutations of the color pigment genes http://www.retina-international.com/sci-news/cppmut.htm GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPN1LW
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About This Section Patent Information for OPN1LW gene: Search GeneIP for patents involving OPN1LW GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor OPN1LW gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
Search Tocris compounds for OPN1LW
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