Human Gene OPN1LW (ENST00000369951.9_4) from GENCODE V47lift37
  Description: opsin 1, long wave sensitive (from RefSeq NM_020061.6)
Gencode Transcript: ENST00000369951.9_4
Gencode Gene: ENSG00000102076.10_9
Transcript (Including UTRs)
   Position: hg19 chrX:153,409,717-153,424,507 Size: 14,791 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chrX:153,409,758-153,424,401 Size: 14,644 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:153,409,717-153,424,507)mRNA (may differ from genome)Protein (359 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: OPSR_HUMAN
DESCRIPTION: RecName: Full=Long-wave-sensitive opsin 1; AltName: Full=Red cone photoreceptor pigment; AltName: Full=Red-sensitive opsin; Short=ROP;
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;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: The three color pigments are found in the cone photoreceptor cells.
PTM: Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.
DISEASE: Defects in OPN1LW are the cause of partial colorblindness protan series (CBP) [MIM:303900]; also known as protanopia.
DISEASE: Defects in OPN1LW are a cause of 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.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
WEB RESOURCE: Name=Mutations of the color pigment genes; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/cppmut.htm";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPN1LW";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: OPN1LW
Diseases sorted by gene-association score: colorblindness, protan* (1200), blue cone monochromacy* (1131), red color blindness* (417), red-green color vision defects* (71), retinitis pigmentosa* (39), color vision deficiency (18), color blindness (13), red-green color blindness (12), cone dystrophy (12), spinocerebellar ataxia 13 (8), myopia (7), achromatopsia (5), emery-dreifuss muscular dystrophy (2)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.08 RPKM in Testis
Total median expression: 0.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.8041-0.288 Picture PostScript Text
3' UTR -13.60106-0.128 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR017452 - GPCR_Rhodpsn_supfam
IPR001760 - Opsin
IPR000378 - Opsin_red/grn

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)
PF10324 - Serpentine type 7TM GPCR chemoreceptor Srw

SCOP Domains:
81321 - Family A G protein-coupled receptor-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1KPX - Model


ModBase Predicted Comparative 3D Structure on P04000
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0008020 G-protein coupled photoreceptor activity
GO:0009881 photoreceptor activity

Biological Process:
GO:0001523 retinoid metabolic process
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007601 visual perception
GO:0007602 phototransduction
GO:0009584 detection of visible light
GO:0018298 protein-chromophore linkage
GO:0032467 positive regulation of cytokinesis
GO:0050896 response to stimulus

Cellular Component:
GO:0001750 photoreceptor outer segment
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0097381 photoreceptor disc membrane


-  Descriptions from all associated GenBank mRNAs
  CR749814 - Homo sapiens mRNA; cDNA DKFZp781I1948 (from clone DKFZp781I1948).
BC156643 - Synthetic construct Homo sapiens clone IMAGE:100062150, MGC:190182 opsin 1 (cone pigments), long-wave-sensitive (OPN1LW) mRNA, encodes complete protein.
JD116268 - Sequence 97292 from Patent EP1572962.
JD502160 - Sequence 483184 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P04000 (Reactome details) participates in the following event(s):

R-HSA-2465924 OPN1SW, OPN1MW, OPN1LW bind 11cRAL
R-HSA-419841 Light stimulates opsin receptors
R-HSA-2466085 at-retinyl is hydrolysed from R* to release atRAL
R-HSA-2465917 Photons induce isomerisation of 11c-retinyl to at-retinyl
R-HSA-8982637 Opsins binds G alpha-t
R-HSA-8982640 G-alpha(t):G-beta-gamma:Opsins complex dissociates to active G-alpha(t)
R-HSA-420883 Opsins act as GEFs for G alpha-t
R-HSA-2187335 The retinoid cycle in cones (daylight vision)
R-HSA-2453864 Retinoid cycle disease events
R-HSA-419771 Opsins
R-HSA-2187338 Visual phototransduction
R-HSA-2474795 Diseases associated with visual transduction
R-HSA-418594 G alpha (i) signalling events
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-5663202 Diseases of signal transduction
R-HSA-388396 GPCR downstream signalling
R-HSA-500792 GPCR ligand binding
R-HSA-1643685 Disease
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000369951.1, ENST00000369951.2, ENST00000369951.3, ENST00000369951.4, ENST00000369951.5, ENST00000369951.6, ENST00000369951.7, ENST00000369951.8, NM_020061, OPSR_HUMAN, P04000, RCP, uc318hzc.1, uc318hzc.2
UCSC ID: ENST00000369951.9_4
RefSeq Accession: NM_020061.6
Protein: P04000 (aka OPSR_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.