Entrez Summary: This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008].
UniProt Summary: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.
Pfam DomainsGO Terms
Pfam Domains
7TM GPCR Srw
7tm 1
7TM GPCR Srv
GO Terms
G protein-coupled photoreceptor activity
protein-chromophore linkage
photoreceptor disc membrane
phototransduction
detection of visible light
photoreceptor outer segment
detection of light stimulus
retinoid metabolic process
diterpenoid metabolic process
cellular response to light stimulus
terpenoid metabolic process
detection of external stimulus
detection of abiotic stimulus
isoprenoid metabolic process
cellular response to radiation
signaling receptor activity
visual perception
sensory perception of light stimulus
response to light stimulus
cellular response to abiotic stimulus
cellular response to environmental stimulus
response to radiation
detection of stimulus
cellular lipid metabolic process
sensory perception
response to abiotic stimulus
lipid metabolic process
G protein-coupled receptor signaling pathway
nervous system process
integral component of plasma membrane
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)