InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: OPN1MW2

Summary

InnateDB Protein

IDBP-90929.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

OPN1MW2

Protein Name

opsin 1 (cone pigments), medium-wave-sensitive 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000358945

InnateDB Gene

IDBG-90927 (OPN1MW2)

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, 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:0000269PubMed:12051694, ECO:0000269PubMed: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:0000269PubMed: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:0000269PubMed:20579627}. 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 0 experimentally validated interaction(s) in this database.

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: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:0005886	plasma membrane
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

P04001