Reference Gene

Gene name Alias Species Exons Type Paralogs EC number OMIM
OPN1SW opsin 1, short wave sensitive BCP , BOP , CBT Homo sapiens 5 protein-coding RGR , RGR , GPR88 , GPR88 , RRH , RRH , OPN4 , OPN4 , OPN5 , OPN5 , RHO , RHO , OPN1MW2 , OPN1MW2 , OPN1MW3 , OPN1MW3 , OPN1MW , OPN1MW , OPN1LW , OPN1LW , OPN1SW , OPN3 , GPR52 , OPN3 , GPR52 613522

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]

GeneOntology

Gene Loss events - OPN1SW (46 results)

GL_ID Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_AA3UZW Balaenoptera musculus Artiodactyla LOF (frameshift, premature stop, ss) Full No 10.1371/journal.pgen.1003432
GL_AU6BJ2 Manis javanica Pholidota LOF (frameshift, premature stop, ss) Full No 10.1093/icb/icy004
GL_BPZYHA Delphinapterus leucas Artiodactyla LOF (frameshift, premature stop, ss) Polymorphic No 10.1371/journal.pgen.1003432
GL_DVWDQN Rhinolophus sinicus Chiroptera LOF (frameshift, premature stop, ss) Full No 10.1093/icb/icy004
GL_ERJSNV Otolemur garnettii Primates LOF (frameshift, premature stop, ss) Full No 10.1093/icb/icy004
GL_F4RF4T Kogia breviceps Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.1098/rspb.2002.2278
GL_HSFIKN Ziphius cavirostris Artiodactyla LOF (frameshift, premature stop, ss) Full No 10.1371/journal.pgen.1003432
GL_KC9SG6 Kogia breviceps Artiodactyla LOF (frameshift, premature stop, ss) Full No 10.1371/journal.pgen.1003432
GL_LIODDD Platanista gangetica Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.1098/rspb.2002.2278
GL_LT73JO Hipposideros armiger Chiroptera Gene deletion Full No 10.1093/icb/icy004