OPN1SW (opsin 1, short wave sensitive)

2014-11-01  

Identity

HGNC
OPN1SW
LOCATION
7q32.1
LOCUSID
611
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
retina
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA451906warfarinChemicalVariantAnnotationnot associatedPD19794411

References

Pubmed IDYearTitleCitations
324005132020Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency.3
324005132020Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency.3
280452512017A G Protein-Coupled Receptor Dimerization Interface in Human Cone Opsins.13
283589492017Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.14
280452512017A G Protein-Coupled Receptor Dimerization Interface in Human Cone Opsins.13
283589492017Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.14
256053382015Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).4
256053382015Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).4
230221372012Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.10
230221372012Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.10
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.12
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.12
191891392009Low-frequency vibrational modes and infrared absorbance of red, blue and green opsin.2
193865932009The action of 11-cis-retinol on cone opsins and intact cone photoreceptors.25
194930022009Expressions of rod and cone photoreceptor-like proteins in human epidermis.26

Citation

Dessen P

OPN1SW (opsin 1, short wave sensitive)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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