Human Gene OPN1MW (ENST00000595290.6_4) from GENCODE V47lift37
  Description: opsin 1, medium wave sensitive (from RefSeq NM_000513.2)
Gencode Transcript: ENST00000595290.6_4
Gencode Gene: ENSG00000268221.6_13
Transcript (Including UTRs)
   Position: hg19 chrX:153,448,085-153,462,352 Size: 14,268 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chrX:153,448,167-153,461,531 Size: 13,365 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:153,448,085-153,462,352)mRNA (may differ from genome)Protein (364 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: OPSG_HUMAN
DESCRIPTION: RecName: Full=Medium-wave-sensitive opsin 1; AltName: Full=Green cone photoreceptor pigment; AltName: Full=Green-sensitive opsin; Short=GOP;
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)=530 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 OPN1MW are the cause of partial colorblindness deutan series (CBD) [MIM:303800]; also known as deuteranopia.
DISEASE: Defects in OPN1MW 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.
DISEASE: Defects in OPN1MW are a cause of cone dystrophy type 5 (COD5) [MIM:303700]. A X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.
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/OPN1MW";

-  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: OPN1MW
Diseases sorted by gene-association score: blue cone monochromacy* (1698), colorblindness, deutan* (1200), red-green color vision defects* (100), cone dystrophy (40), retinitis pigmentosa* (38), red-green color blindness (17), color blindness (15), color vision deficiency (13), red color blindness (12), achromatopsia (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -28.8082-0.351 Picture PostScript Text
3' UTR -329.50821-0.401 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
1KPW - Model


ModBase Predicted Comparative 3D Structure on P04001
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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    
Gene SorterGene Sorter    
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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
GO:0042802 identical protein binding

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:0005886 plasma membrane
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
  BC140938 - Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive, mRNA (cDNA clone MGC:176615 IMAGE:9056750), complete cds.
BC143790 - Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive, mRNA (cDNA clone MGC:177321 IMAGE:9052304), complete cds.
BC171754 - Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive, mRNA (cDNA clone MGC:198468 IMAGE:9053255), complete cds.
BC171755 - Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive, mRNA (cDNA clone MGC:198469 IMAGE:9053256), complete cds.
BC156776 - Synthetic construct Homo sapiens clone IMAGE:100062230, MGC:190214 opsin 1 (cone pigments), medium-wave-sensitive (OPN1MW) 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 P04001 (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: ENST00000595290.1, ENST00000595290.2, ENST00000595290.3, ENST00000595290.4, ENST00000595290.5, GCP, NM_000513, OPN1MW , OPSG_HUMAN, P04001, uc327ajj.1, uc327ajj.2
UCSC ID: ENST00000595290.6_4
RefSeq Accession: NM_000513.2
Protein: P04001 (aka OPSG_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.