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OPN1LW Gene

protein-coding   GIFtS: 50

GC0XP153062
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 &
Descriptions
for OPN1LW

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
CBBM 2, 5
CBP 2, 5
OTTHUMP00000032193 2
RCP 2, 3, 5
Descriptions
Red cone photoreceptor pigment 1, 2, 3
color blindness, protan 1
opsin 1 (cone pigments), long-wave-sensitive 2
red-sensitive opsin 2
External Ids
HGNC: 99361
Entrez Gene: 59562
UniProtKB: P040003
Ensembl: ENSG000001020767
Search outside databases for aliases for OPN1LW gene

Previous GC identifers: GC0XP147547 GC0XP149864 GC0XP150995 GC0XP151916 GC0XP151877 GC0XP152930

Summaries
for OPN1LW

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene 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

Genomic Location
for OPN1LW

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the OPN1LW gene  

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 GC0XP153062:     (about GC identifiers)

Start:
 153,062,939 bp from pter
End:
 153,077,701 bp from pter
Size:
 14,763 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000023.9  NT_011726.13  

Proteins
for OPN1LW

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: OPSR_HUMAN, P04000 (See protein sequence)
Recommended Name: Red-sensitive opsin  
Size: 364 amino acids; 40572 Da
Subcellular location: Membrane; Multi-pass membrane protein
PDB structures from and Proteopedia :
1KPX (3D)    

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 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Opsin 1)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887 integral to plasma membrane TAS9860863
    GO:0016020 membrane IEA--
    About this table

    Antibodies for OPN1LW: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of OPN1LW
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (Opsin 1), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for OPN1LW

    Assays for OPN1LW: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for OPN1LW

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro domains/families:
     IPR000378 Opsin_red/grn
     IPR017452 GPCR_Rhodpsn_supfam
     IPR000276 7TM_GPCR_Rhodpsn
     IPR001760 Opsin


       GeneDecks  OPN1LW for the domains selected above  
    About GeneDecksing

    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

    Gene Function
    for OPN1LW

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Browse Invitrogen for RNAi
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (OPN1LW)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020061

                  Applied Biosystems Silencer® siRNAs for OPN1LW

                  Sigma-Aldrich siRNA and siRNA Panels for OPN1LW  
                         Sigma-Aldrich shRNA Panels and shRNA for OPN1LW  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_020061
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_020061
                                     untagged cDNA clone in CMV expression vector: NM_020061 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_020061

    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 (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930 G-protein coupled receptor activity IEA--
    GO:0009881 photoreceptor activity TAS9860863
    About this table

    Pathways & Interactions
    for OPN1LW

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  OPN1LW  (Your Favorite Gene powered by Ingenuity) 
     Phototransduction Pathway

       GeneDecks  OPN1LW for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  OPN1LW 


    1 Interacting protein for OPN1LW (ENSP000003589673) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARR3ENSP000003636043STRING (score=.719)
    About this table

    5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165 signal transduction TAS2937147
    GO:0007186 G-protein coupled receptor protein signaling pathway IEA--
    GO:0007601 visual perception TAS7643192
    GO:0007602 phototransduction IEA--
    GO:0018298 protein-chromophore linkage IEA--
    About this table

    Drugs & Compounds
    for OPN1LW

    (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

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for OPN1LW
    1 Novoseek chemical compound relationship for OPN1LW gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0.00 2 2029536 (1), 11574661 (1)
    About this table


    Transcripts
    for OPN1LW

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    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 Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Browse Invitrogen for RNAi
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (OPN1LW)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020061

                  Sigma-Aldrich siRNA and siRNA Panels for OPN1LW  
                         Sigma-Aldrich shRNA Panels and shRNA for OPN1LW  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_020061  

    REFSEQ mRNAs for OPN1LW gene: 

    NM_020061.4   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_020061  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_020061
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_020061
                                     untagged cDNA clone in CMV expression vector: NM_020061 

    Additional cDNA sequence: CR749814.1 

    1 DOTS entry:

    DT.436489 

    24/28 AceView cDNA sequences (see all 28 ):

    BQ637240 NM_020061 BV182704 BV167401 BV181233 BQ638605 BV167404 AW950066 
    BV183299 T27896 BV183303 BV181076 BV167403 BQ638223 BV183302 BV167405 
    BV181234 BV183300 BQ639996 BV182703 CR749814 BV167402 BM704021 BV183301 

    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

    1 Ensembl transcript including schematic representation:
    ENST00000369951  

    Expression
    for OPN1LW

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    OPN1LW expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for OPN1LW

    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 0.33 -- -- NM_000513 0.20 0.33 0.27 2

    		221327_s_at2 U133Plus2 3 1.00 0.33 -- -- -- -- -- -- --
    About this table
    Data from (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

    Orthologs
    for OPN1LW

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, 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 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 OPN1LW1   -- opsin 1 (cone pigments), long-wave-sensitive 88.55(n)
    89.29(a)    		 403778  XM_538203.2  XP_538203.2 
    chimpanzee
    (Pan troglodytes)    		 OPN1LW1   -- opsin 1 (cone pigments), long-wave-sensitive 98.9(n)
    98.63(a)    		 741998  XM_001144896.1  XP_001144896.1 
    cow
    (Bos taurus)    		 OPN1LW1   -- opsin 1 (cone pigments), long-wave-sensitive 88.1(n)
    89.29(a)    		 282293  NM_174566.1  NP_776991.1 
    rat
    (Rattus norvegicus)    		 Opn1mw1   -- opsin 1 (cone pigments), medium-wave-sensitive 85.99(n)
    89.08(a)    		 89810  NM_053548.1  NP_446000.1 
    mouse
    (Mus musculus)    		 Opn1lw5
    Opn1mw1    		 X (29.70 cM)5
    		 opsin 1 (cone pigments), long-wave-sensitive5
    opsin 1 (cone pigments), medium-wave-sensitive (color more1    		 86.65(n)1
    88.24(a)1    		 145391  NM_008106.21  NP_032132.11 
     AF1213515 
    About this table        Species with no ortholog for OPN1LW

    ENSEMBL Gene Tree for OPN1LW

    Paralogs
    for OPN1LW

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for OPN1LW gene
    OPN1MW2  OPN1SW2  RHO2  OPN1MW22  

    SNPs/Variants
    for OPN1LW

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/27 NCBI SNPs in OPN1LW are shown (see all 27 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 10)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr X posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs15736561,2
    		A,C,F,H153062078(+) GGCCCG/ATTGGT 1 -- ng514Minor allele frequency- A:0.32EU EA WA 410
    --
    rs23151221,2
    		H153075038(+) TGATGA/GTCTTT 1 I/V mis1 ese34Minor allele frequency- G:0.00EU EA WA 400
    --
    rs10654221,2
    		F153069556(+) GGTCTC/ATGGCT 1 Y/S mis1 ese31Minor allele frequency- A:0.44MN 184
    --
    rs23151271,2
    		H153075053(+) ACTGCG/TTCTGC 1 V/F mis1 ese32Minor allele frequency- T:0.00EU WA 230
    --
    rs10654391,2
    		C,F,O153075106(+) CCTGGT/CTACGC 1 G/G syn13Minor allele frequency- C:0.15NA 109
    --
    rs172945001,2
    		F153069509(+) GACCTG/AGCAGA 1 L/L syn11Minor allele frequency- A:0.15MN 184
    --
    rs104824721,2
    		A,C153067778(+) gaagcA/Gggaga 1 -- int10--------
    --
    rs123971271,2
    		--153061134(+) ttggaG/Tgagct 1 -- ng510--------
    rs30211281,2
    		--153062890(+) AAAGCA/GCCGTG 1 -- ng51 tfbs30--------
    rs30211271,2
    		--153062880(+) AGGCCA/GGTATA 1 -- ng51 tfbs30--------
    About this table

    HapMap Linkage Disequilibrium images for OPN1LW (up to first 250kb)

    Disorders & Mutations
    for OPN1LW

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 303900

    UniProtKB/Swiss-Prot: OPSR_HUMAN, P04000

  • Defects in OPN1LW are the cause of partial colorblindness protan series (CBP)
    [MIM:303900]; also called protanopia

    • GeneTests: OPN1LW

    Red-Green Color Vision Defects

    Human Gene Mutation Database: OPN1LW

    Medical News
    for OPN1LW

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for OPN1LW

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/36 PubMed articles for OPN1LW gene (see all 36 ):

    Search for OPN1LW

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing OPN1LW

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 5956 HGNC: 9936 AceView: OPN1LW Ensembl:ENSG00000102076 euGenes: HUgn5956
    ECgene: OPN1LW H-InvDB: OPN1LW

    Other Databases showing OPN1LW

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing OPN1LW

    (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
    NameDescription
    Mutations of the color pigment geneshttp://www.retina-international.com/sci-news/cppmut.htm
    GeneReviewshttp://www.genetests.org/query?gene=OPN1LW

    Licensable Technologies
    for OPN1LW

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for OPN1LW

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for OPN1LW:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
    		  Free SNP selection tool



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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for OPN1LW-related products

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     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for OPN1LW Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for OPN1LW Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant & Natural Proteins  

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     Recombinant Proteins
    (Opsin 1)
     Antibodies (Opsin 1)
     Search OriGene for OPN1LW
     Search Tocris compounds for OPN1LW




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Search Novus for antibodies for OPN1LW

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