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]
(6-4)-photolyase (phr6-4) encodes an enzyme that repairs DNA damage induced by ultraviolet light. It uses blue light and cofactor FADH to reverse the pyrimidine(6-4)pyrimidone photoproduct.
PHENOTYPE: Mice homozygous for this spontaneous mutation display anophthalmia and microphthalmia; heterozygous mutants show a higher incidence of eye defects following maternal injection of trypan blue during pregnancy. [provided by MGI curators]
Predicted to enable dopachrome isomerase activity. Involved in response to blue light. Located in intracellular membrane-bounded organelle and plasma membrane. Implicated in oculocutaneous albinism. [provided by Alliance of Genome Resources, Apr 2022]
PHENOTYPE: Mice homozygous for a null allele exhibit normal photoentrainment but impaired adaptive thermoregulation. Mice homozygous for a conditional allele activated in adipocytes exhibit blue-light sensitive impairment in adaptive thermoregulation. [provided by MGI curators]
Component of the dynactin complex; dynactin is required for dynein activity; null mutant exhibits defects in nuclear migration and spindle orientation and has reduced affinity for alcian blue dye; has homology to mammalian dynactin subunit p24
Transcription factor, activates transcription of stress response genes; nuclear localization is positively regulated by calcineurin-mediated dephosphorylation; rapidly localizes to the nucleus under blue light stress; can be activated in stochastic pulses of nuclear localization in response to calcium
Stress-responsive transcriptional activator; activated in stochastic pulses of nuclear localization in response to various stress conditions; binds DNA at stress response elements of responsive genes; light sensing pathway component that accumulates in the nucleus in response to blue light; relative distribution to nucleus increases upon DNA replication stress