Homo sapiens Gene: OPN1SW
Summary
InnateDB Gene IDBG-39986.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol OPN1SW
Gene Name opsin 1 (cone pigments), short-wave-sensitive
Synonyms BCP; BOP; CBT
Species Homo sapiens
Ensembl Gene ENSG00000128617
Encoded Proteins
opsin 1 (cone pigments), short-wave-sensitive
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:128772491-128775790
Strand Reverse strand
Band q32.1
Transcripts
ENST00000249389 ENSP00000249389
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0004872 receptor activity
GO:0004930 G-protein coupled receptor activity
GO:0009881 photoreceptor activity
Biological Process
GO:0001523 retinoid metabolic process
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007601 visual perception
GO:0007602 phototransduction
GO:0007603 phototransduction, visible light
GO:0018298 protein-chromophore linkage
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0005887 integral component of plasma membrane
GO:0016021 integral component of membrane
GO:0042622 photoreceptor outer segment membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
G alpha (i) signalling events pathway
Opsins pathway
Class A/1 (Rhodopsin-like receptors) pathway
The retinoid cycle in cones (daylight vision) pathway
Retinoid cycle disease events pathway
Signaling by GPCR pathway
Signal Transduction pathway
GPCR downstream signaling pathway
Diseases associated with visual transduction pathway
Visual phototransduction pathway
GPCR ligand binding pathway
Disease pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt P03999
TrEMBL Q0PJU0
UniProt Splice Variant
Entrez Gene 611
UniGene Hs.656404
RefSeq NM_001708
HUGO HGNC:1012
OMIM 613522
CCDS CCDS5806
HPRD
IMGT
EMBL CH236950 CH471070 DQ822478 L32835 M13295 M13296 M13297 M13298 M13299 M26172 U53874
GenPept AAA35608 AAB05207 AAC51334 AAL31362 ABH01259 EAL24112 EAW83680
RNA Seq Atlas 611