OPN1SW

OPN1SW Gene 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]

Details

Type
Protein Coding
Official Symbol
OPN1SW
Official Name
opsin 1, short wave sensitive [Source:HGNC Symbol;Acc:HGNC:1012]
Ensembl ID
ENSG00000128617
Bio databases IDs NCBI: 611 Ensembl: ENSG00000128617
Aliases opsin 1, short wave sensitive, color blindness, tritan, blue-sensitive opsin
Synonyms
BCP,BLUE CONE OPSIN,BLUE OPSIN,BOP,CBT,opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan),opsin 1, short wave sensitive,S-opsin
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • G-protein coupled receptor
  • signaling receptor activity
  • 7 transmembrane receptor (rhodopsin family)
  • protein binding
  • seven-transmembrane G protein-coupled receptor superfamily

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • ARR3
  • USP48
  • HSPA8
  • histone H3
  • GTF2IRD1
  • ANKRD13D
  • CRX
  • MFF
disease
  • Huntington disease
  • liver cancer
  • liver neoplasia
  • digestive system cancer
  • abdominal cancer
  • cancer
  • epithelial cancer
  • epithelial neoplasia
  • tritan colorblindness
  • cholangiocarcinoma cancer
regulated by
  • methimazole
  • L-triiodothyronine
  • LRAT
  • ADIPOR1
  • GTF2IRD1
  • CRX
  • CNGA3
  • NRL
  • GUCY2D
  • PDE6 (rod)
regulates
  • HAMP
  • CYP
role in cell
  • growth
  • survival
  • replication in
  • endoplasmic reticulum stress response
  • cisplatin sensitivity
  • degeneration

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • intracellular space
  • perinuclear region
  • cellular membrane
  • Nucleus
  • cytoplasmic bridges
  • cytosol
  • nucleoplasm
  • photoreceptor outer segments
  • cellular protrusions
  • perikaryon
  • axon terminals
  • cone outer segments

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the OPN1SW gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • cellular response to light stimulus
  • cellular response to UV-A
  • G-protein coupled receptor signaling pathway
  • detection of visible light
  • signal transduction
  • visual perception
  • phototransduction

CELLULAR COMPONENT

Where in the cell the gene product is active
  • intercellular bridge
  • perinuclear region of cytoplasm
  • cytosol
  • photoreceptor inner segment
  • plasma membrane
  • nucleoplasm
  • photoreceptor outer segment

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • protein binding
  • signaling receptor activity
  • G-protein coupled photoreceptor activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.