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Aliases for OPN1MW Gene

Aliases for OPN1MW Gene

  • Opsin 1 (Cone Pigments), Medium-Wave-Sensitive 2 3
  • Green Cone Photoreceptor Pigment 2 3 4
  • GCP 3 4 6
  • Cone Dystrophy 5 (X-Linked) 2 3
  • Green-Sensitive Opsin 3 4
  • CBBM 3 6
  • CBD 3 6
  • GOP 3 4
  • Medium-Wave-Sensitive Opsin 1 3
  • Color Blindness, Deutan 2
  • Photopigment Apoprotein 3
  • Green Cone Pigment 3
  • OPN1MW OPN1MW2 4
  • OPN1MW1 3
  • COD5 3

External Ids for OPN1MW Gene

Previous HGNC Symbols for OPN1MW Gene

  • GCP
  • CBBM
  • CBD

Previous GeneCards Identifiers for OPN1MW Gene

  • GC0XP148439
  • GC0XP150757
  • GC0XP151033
  • GC0XP151953
  • GC0XP151917
  • GC0XP152969
  • GC0XP153101
  • GC0XP153448

Summaries for OPN1MW Gene

Entrez Gene Summary for OPN1MW Gene

  • This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of 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 deutanopic colorblindness. [provided by RefSeq, Mar 2009]

GeneCards Summary for OPN1MW Gene

OPN1MW (Opsin 1 (Cone Pigments), Medium-Wave-Sensitive) is a Protein Coding gene. Diseases associated with OPN1MW include blue cone monochromacy and colorblindness, deutan. Among its related pathways are Signaling by GPCR and Disease. An important paralog of this gene is LOC101060233.

UniProtKB/Swiss-Prot for OPN1MW 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 OPN1MW Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OPN1MW Gene

Genomics for OPN1MW Gene

Regulatory Elements for OPN1MW Gene

Genomic Location for OPN1MW Gene

Start:
154,182,596 bp from pter
End:
154,196,861 bp from pter
Size:
14,266 bases
Orientation:
Plus strand

Genomic View for OPN1MW Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OPN1MW Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OPN1MW Gene

Proteins for OPN1MW Gene

  • Protein details for OPN1MW Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04001-OPSG_HUMAN
    Recommended name:
    Medium-wave-sensitive opsin 1
    Protein Accession:
    P04001
    Secondary Accessions:

    Protein attributes for OPN1MW Gene

    Size:
    364 amino acids
    Molecular mass:
    D Da
    Quaternary structure:
    No Data Available

neXtProt entry for OPN1MW Gene

Proteomics data for OPN1MW Gene at MOPED

Post-translational modifications for OPN1MW Gene

  • Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region
  • Glycosylation at Asn34
  • Modification sites at PhosphoSitePlus

Other Protein References for OPN1MW Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for OPN1MW Gene

Domains for OPN1MW Gene

Gene Families for OPN1MW Gene

HGNC:
  • OPN :GPCR / Class A : Opsin receptors

Protein Domains for OPN1MW Gene

Suggested Antigen Peptide Sequences for OPN1MW Gene

Graphical View of Domain Structure for InterPro Entry

P04001

UniProtKB/Swiss-Prot:

OPSG_HUMAN :
  • P04001
Family:
  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
genes like me logo Genes that share domains with OPN1MW: view

Function for OPN1MW Gene

Molecular function for OPN1MW Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Absorption: Abs(max)=530 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

Gene Ontology (GO) - Molecular Function for OPN1MW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity IEA --
GO:0009881 photoreceptor activity IMP 8185948
genes like me logo Genes that share ontologies with OPN1MW: view

Phenotypes for OPN1MW Gene

MGI mutant phenotypes for OPN1MW:
inferred from 1 alleles
GenomeRNAi human phenotypes for OPN1MW:
genes like me logo Genes that share phenotypes with OPN1MW: view

Animal Model Products

CRISPR Products

miRNA for OPN1MW Gene

miRTarBase miRNAs that target OPN1MW

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for OPN1MW Gene

Localization for OPN1MW Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPN1MW Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OPN1MW Gene COMPARTMENTS Subcellular localization image for OPN1MW gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for OPN1MW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 20579627
GO:0005887 integral component of plasma membrane TAS 2937147
GO:0016021 integral component of membrane --
GO:0042622 photoreceptor outer segment membrane TAS --
genes like me logo Genes that share ontologies with OPN1MW: view

Pathways for OPN1MW Gene

genes like me logo Genes that share pathways with OPN1MW: view

Pathways by source for OPN1MW Gene

Interacting Proteins for OPN1MW Gene

Selected Interacting proteins: P04001-OPSG_HUMAN for OPN1MW Gene via I2D

Symbol External ID(s) Details
ARR3
RANBP2

Gene Ontology (GO) - Biological Process for OPN1MW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007601 visual perception IEA --
GO:0007603 phototransduction, visible light TAS --
GO:0018298 protein-chromophore linkage IEA --
genes like me logo Genes that share ontologies with OPN1MW: view

Transcripts for OPN1MW Gene

mRNA/cDNA for OPN1MW Gene

(1) REFSEQ mRNAs :
(1) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OPN1MW Gene

Opsin 1 (cone pigments), medium-wave-sensitive:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OPN1MW

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for OPN1MW
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for OPN1MW Gene

No ASD Table

Relevant External Links for OPN1MW Gene

GeneLoc Exon Structure for
OPN1MW
ECgene alternative splicing isoforms for
OPN1MW

Expression for OPN1MW Gene

mRNA expression in normal human tissues for OPN1MW Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for OPN1MW Gene Hs.247787

mRNA Expression by UniProt/SwissProt for OPN1MW Gene

P04001-OPSG_HUMAN
Tissue specificity: The three color pigments are found in the cone photoreceptor cells
genes like me logo Genes that share expressions with OPN1MW: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein expression for OPN1MW Gene

Orthologs for OPN1MW Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for OPN1MW Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Opn1mw 16
Species with no ortholog for OPN1MW:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for OPN1MW Gene

ENSEMBL:
Gene Tree for OPN1MW (if available)
TreeFam:
Gene Tree for OPN1MW (if available)

Paralogs for OPN1MW Gene

Paralogs for OPN1MW Gene

Selected SIMAP similar genes for OPN1MW Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with OPN1MW: view

Variants for OPN1MW Gene

Sequence variations from dbSNP and Humsavar for OPN1MW Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs2071693 -- 154,188,120(+) CAAGC(C/T)CCTCC intron-variant
rs3788802 -- 154,189,015(-) GGACC(C/T)GGGGA intron-variant
rs6643665 -- 154,183,431(+) CGAGT(C/T)CTGCC intron-variant
rs6643831 -- 154,184,505(+) attca(A/G)attga intron-variant
rs55731535 -- 154,188,555(+) GTGGC(C/G)GAGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OPN1MW Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv33784 CNV Gain+Loss 17666407
nsv519042 CNV Gain 19592680
nsv7161 CNV Loss 18451855
esv27518 CNV Gain+Loss 19812545
nsv515186 CNV Complex 21397061

Relevant External Links for OPN1MW Gene

HapMap Linkage Disequilibrium report
OPN1MW
Human Gene Mutation Database (HGMD)
OPN1MW
Locus Specific Mutation Databases (LSDB)
OPN1MW

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OPN1MW Gene

Disorders for OPN1MW Gene

(2) OMIM Diseases for OPN1MW Gene (300821)

UniProtKB/Swiss-Prot

OPSG_HUMAN
  • Colorblindness, partial, deutan series (CBD) [MIM:303800]: A color vision defect characterized by a dichromasy in which red and green are confused, without loss of luminance or shift or shortening 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, ECO:0000269 PubMed:1302020}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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:8666378}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cone dystrophy 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. {ECO:0000269 PubMed:20579627}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for OPN1MW Gene

Relevant External Links for OPN1MW

GeneTests
OPN1MW
GeneReviews
OPN1MW
Genetic Association Database (GAD)
OPN1MW
Human Genome Epidemiology (HuGE) Navigator
OPN1MW
genes like me logo Genes that share disorders with OPN1MW: view

Publications for OPN1MW Gene

  1. Defective colour vision associated with a missense mutation in the human green visual pigment gene. (PMID: 1302020) Winderickx J. … Deeb S.S. (Nat. Genet. 1992) 3 4 48
  2. Fulfilling the promise of personalized medicine? Systematic review and field synopsis of pharmacogenetic studies. (PMID: 19956635) Holmes M.V. … Casas J.P. (PLoS ONE 2009) 3 48
  3. Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. (PMID: 12051694) Ueyama H. … Yamade S. (Biochem. Biophys. Res. Commun. 2002) 3 4
  4. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. (PMID: 2937147) Nathans J. … Hogness D.S. (Science 1986) 3 4
  5. Molecular biology of the visual pigments. (PMID: 3303660) Applebury M.L. … Hargrave P.A. (Vision Res. 1986) 3 4

Products for OPN1MW Gene

Sources for OPN1MW Gene

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