OPN1SW (opsin 1, short wave sensitive)

2014-11-01  

Identity

HGNC
LOCATION
7q32.1
LOCUSID
ALIAS
BCP,BOP,CBT

Other Information

Locus ID:

NCBI: 611
MIM: 613522
HGNC: 1012
Ensembl: ENSG00000128617

Variants:

dbSNP: 611
ClinVar: 611
TCGA: ENSG00000128617
COSMIC: OPN1SW

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128617ENST00000249389P03999
ENSG00000128617ENST00000249389Q0PJU0

Expression (GTEx)

0
1
2
3
4
5
6

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Diseases associated with visual transductionREACTOMER-HSA-2474795
Retinoid cycle disease eventsREACTOMER-HSA-2453864
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
OpsinsREACTOMER-HSA-419771
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (i) signalling eventsREACTOMER-HSA-418594
Visual phototransductionREACTOMER-HSA-2187338
The retinoid cycle in cones (daylight vision)REACTOMER-HSA-2187335

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA451906warfarinChemicalVariantAnnotationnot associatedPD19794411

References

Pubmed IDYearTitleCitations
193865932009The action of 11-cis-retinol on cone opsins and intact cone photoreceptors.23
194930022009Expressions of rod and cone photoreceptor-like proteins in human epidermis.14
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
280452512017A G Protein-Coupled Receptor Dimerization Interface in Human Cone Opsins.10
169619732006A novel mutation in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect.8
230221372012Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.8
283589492017Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.3
256053382015Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).2
191891392009Low-frequency vibrational modes and infrared absorbance of red, blue and green opsin.1

Citation

Dessen P

OPN1SW (opsin 1, short wave sensitive)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71133/opn1sw