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Aliases for OPN1MW Gene

Aliases for OPN1MW Gene

  • Opsin 1 (Cone Pigments), Medium-Wave-Sensitive 2 3 5
  • Green Cone Photoreceptor Pigment 2 3 4
  • Cone Dystrophy 5 (X-Linked) 2 3
  • Green-Sensitive Opsin 3 4
  • GCP 3 4
  • GOP 3 4
  • Medium-Wave-Sensitive Opsin 1 3
  • Color Blindness, Deutan 2
  • Photopigment Apoprotein 3
  • Green Cone Pigment 3
  • OPN1MW1 3
  • COD5 3
  • CBBM 3
  • CBD 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 Metabolism of fat-soluble vitamins and Signaling by GPCR. GO annotations related to this gene include G-protein coupled receptor activity and photoreceptor activity. An important paralog of this gene is OPN1MW2.

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

Chromosome:
X
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

Genes around OPN1MW on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OPN1MW Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    Protein attributes for OPN1MW Gene

    Size:
    364 amino acids
    Molecular mass:
    40584 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for OPN1MW Gene

neXtProt entry for OPN1MW Gene

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 Asn 34
  • Modification sites at PhosphoSitePlus

Other Protein References for OPN1MW Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OPN1MW Gene

Domains & Families for OPN1MW Gene

Gene Families for OPN1MW Gene

Suggested Antigen Peptide Sequences for OPN1MW Gene

Graphical View of Domain Structure for InterPro Entry

P04001

UniProtKB/Swiss-Prot:

OPSG_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
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 {ECO:0000305 PubMed:2937147};
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:0004871 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0008020 G-protein coupled photoreceptor activity IBA --
GO:0009881 photoreceptor activity IEA,IMP 8185948
genes like me logo Genes that share ontologies with OPN1MW: view
genes like me logo Genes that share phenotypes with OPN1MW: view

Human Phenotype Ontology for OPN1MW Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for OPN1MW Gene

miRTarBase miRNAs that target OPN1MW

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for OPN1MW Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPN1MW Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OPN1MW gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OPN1MW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IBA --
GO:0005886 plasma membrane IEA,IDA 20579627
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OPN1MW: view

Pathways & Interactions for OPN1MW Gene

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

Interacting Proteins for OPN1MW Gene

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

Gene Ontology (GO) - Biological Process for OPN1MW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA,IBA --
GO:0007601 visual perception IEA --
GO:0007602 phototransduction IEA,IBA --
genes like me logo Genes that share ontologies with OPN1MW: view

No data available for SIGNOR curated interactions for OPN1MW Gene

Transcripts for OPN1MW Gene

mRNA/cDNA for OPN1MW Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(1) Selected AceView cDNA 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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and SAGE for OPN1MW Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of OPN1MW Gene:

OPN1MW

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 expression patterns with OPN1MW: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for OPN1MW Gene

Orthologs for OPN1MW Gene

Evolution for OPN1MW Gene

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

No data available for Orthologs for OPN1MW Gene

Paralogs for OPN1MW Gene

Paralogs for OPN1MW Gene

(7) 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
rs104894914 Blue cone monochromacy (BCM) [MIM:303700], Colorblindness, partial, deutan series (CBD) [MIM:303800], Pathogenic 154,191,716(+) CTTCA(C/T)GCGGC reference, missense
rs104894915 Colorblindness, partial, deutan series (CBD) [MIM:303800], Pathogenic 154,187,939(+) GTGAA(A/C)CTGGC reference, missense
rs104894916 Colorblindness, partial, deutan series (CBD) [MIM:303800], Pathogenic 154,195,934(+) GTTTC(A/G)AAACT reference, missense
rs267606927 Cone dystrophy 5 (COD5) [MIM:303700], Pathogenic 154,190,173(+) TCTCC(C/T)GGATC reference, missense
rs724159983 Pathogenic 154,182,566(+) TTGGG(A/C)GCTTT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv7161 CNV deletion 18451855
nsv519042 CNV gain 19592680
nsv515186 CNV gain 21397061
nsv1132791 CNV duplication 24896259
nsv1075344 CNV deletion 25765185
esv3392584 CNV duplication 20981092
esv3384147 CNV duplication 20981092
esv33784 CNV gain+loss 17666407
esv33199 CNV gain+loss 17666407
esv27518 CNV gain+loss 19812545

Variation tolerance for OPN1MW Gene

Gene Damage Index Score: 0.21; 4.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OPN1MW Gene

Human Gene Mutation Database (HGMD)
OPN1MW
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OPN1MW

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

Disorders for OPN1MW Gene

MalaCards: The human disease database

(7) MalaCards diseases for OPN1MW Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
blue cone monochromacy
  • blue cone monochromatism
colorblindness, deutan
  • red-green color blindness
red-green color vision defects
  • color blindness
retinitis pigmentosa
  • retinitis pigmentosa 1
cone dystrophy
  • retinal cone dystrophy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

OPSG_HUMAN
  • 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.
  • 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.
  • 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.

Relevant External Links for OPN1MW

Genetic Association Database (GAD)
OPN1MW
Human Genome Epidemiology (HuGE) Navigator
OPN1MW
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OPN1MW
genes like me logo Genes that share disorders with OPN1MW: view

No data available for Genatlas for OPN1MW Gene

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 46 64
  2. X-linked cone dystrophy caused by mutation of the red and green cone opsins. (PMID: 20579627) Gardner J.C. … Hardcastle A.J. (Am. J. Hum. Genet. 2010) 3 4 64
  3. 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 46 64
  4. 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 64
  5. Gene conversion between red and defective green opsin gene in blue cone monochromacy. (PMID: 8666378) Reyniers E. … Willems P.J. (Genomics 1995) 4 22 64

Products for OPN1MW Gene

Sources for OPN1MW Gene

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