OPN1SW

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]

Description

Opsin 1, short wave sensitive

Tissue specificity

Tissue enriched (retina)

Subcell location

Nucleoplasm, Nuclear bodies, Cytokinetic bridge, Cytosol

Predicted location

Membrane

Protein family

Disease related genes
G-protein coupled receptors
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted membrane proteins

Chromosome

7 (128772485 - 128775794)

Ensembl ID

ENSG00000128617  (ver. 103.38)

Orthologs

Mouse Opn1sw: ENSMUSG00000058831

UniProt

P03999

neXtProt

NX_P03999

Human splice variants
Mouse splice variants

Protein structure