Homo sapiens Protein: OPN1LW
Summary
InnateDB Protein IDBP-90875.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol OPN1LW
Protein Name opsin 1 (cone pigments), long-wave-sensitive
Synonyms CBBM; CBP; COD5; RCP; ROP;
Species Homo sapiens
Ensembl Protein ENSP00000358967
InnateDB Gene IDBG-90873 (OPN1LW)
Protein Structure
UniProt Annotation
Function Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.
Subcellular Localization Membrane; Multi-pass membrane protein.
Disease Associations Colorblindness, partial, protan series (CBP) [MIM:303900]: A color vision defect characterized by a dichromasy in which red and green are confused, with loss of luminance and shift of brightness and hue curves toward the short wave end 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:0000269PubMed:12051694}. 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:0000269PubMed:8213841, ECO:0000269PubMed:8666378}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity The three color pigments are found in the cone photoreceptor cells.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004930 G-protein coupled receptor 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:0007603 phototransduction, visible light
GO:0018298 protein-chromophore linkage
GO:0032467 positive regulation of cytokinesis
Cellular Component
GO:0005887 integral component of plasma membrane
GO:0016021 integral component of membrane
GO:0042622 photoreceptor outer segment membrane
Protein Structure and Domains
PDB ID
InterPro IPR000276 G protein-coupled receptor, rhodopsin-like
IPR000378 Opsin red/green sensitive
IPR001760 Opsin
IPR017452 GPCR, rhodopsin-like, 7TM
IPR019427 7TM GPCR, serpentine receptor class w (Srw)
PFAM PF00001
PF10324
PRINTS PR00237
PR00575
PR00238
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P04000
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 5956
UniGene Hs.592247
RefSeq NP_064445
HUGO HGNC:9936
OMIM 300822
CCDS CCDS14742
HPRD 02366
IMGT
EMBL M13300 M13301 M13302 M13303 M13304 M13305 Z68193
GenPept AAB59524 CAA92342