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OPN1SW

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

OPN1SW

Available structures

PDB

Ortholog search:PDBe RCSB

List of PDB id codes
1KPN

Identifiers

Aliases

OPN1SW, BCP, BOP, CBT, opsin 1 (cone pigments), short-wave-sensitive, opsin 1, short wave sensitive

External IDs

OMIM:613522;MGI:99438;HomoloGene:1291;GeneCards:OPN1SW;OMA:OPN1SW - orthologs

Gene location (Human)

Chr.	Chromosome 7 (human)^[1]

Band	7q32.1	Start	128,772,485bp^[1]
Band	7q32.1	End	128,775,794bp^[1]

Gene location (Mouse)

Chr.	Chromosome 6 (mouse)^[2]

Band	6\|6 A3.3	Start	29,376,670bp^[2]
Band	6\|6 A3.3	End	29,388,467bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

sural nerve

Brodmann area 46

stromal cell of endometrium

retinal pigment epithelium

Achilles tendon

Descending thoracic aorta

apex of heart

prefrontal cortex

ganglionic eminence

exocrine gland

Top expressed in

blastocyst

neural layer of retina

epithelium of lens

outer nuclear layer

retinal pigment epithelium

lumbar subsegment of spinal cord

embryo

morula

lumbar spinal ganglion

genital tubercle

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	G protein-coupled receptor activity photoreceptor activity signal transducer activity G protein-coupled photoreceptor activity signaling receptor activity
Cellular component	integral component of membrane integral component of plasma membrane membrane photoreceptor outer segment photoreceptor disc membrane
Biological process	response to stimulus signal transduction visual perception retinoid metabolic process phototransduction detection of visible light G protein-coupled receptor signaling pathway cellular response to light stimulus
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


611


12057

Ensembl


ENSG00000128617


ENSMUSG00000058831

UniProt


P03999


P51491

RefSeq (mRNA)


NM_001708 NM_001385125


NM_007538

RefSeq (protein)


NP_001699


NP_031564

Location (UCSC)

Chr 7: 128.77 – 128.78 Mb

Chr 6: 29.38 – 29.39 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Blue-sensitive opsin is aprotein that in humans is encoded by theOPN1SWgene.^[5]^[6]^[7] The OPN1SW gene provides instructions for making a protein that is essential for normal color vision. This protein is found in the retina, which is the light-sensitive tissue at the back of the eye.^[8]

The OPN1SW gene provides instructions for making an opsin pigment that is more sensitive to light in the blue/violet part of the visible spectrum (short-wavelength light). Cones with this pigment are called short-wavelength-sensitive or S cones.^[8] In response to light, the photopigment triggers a series of chemical reactions within an S cone. These reactions ultimately alter the cell's electrical charge, generating a signal that is transmitted to the brain. The brain combines input from all three types of cones to produce normal color vision.^[8]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000128617 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000058831 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Nathans J, Thomas D, Hogness DS (Apr 1986). "Molecular genetics of human color vision: the genes encoding blue, green, and red pigments".Science.232 (4747):193–202.Bibcode:1986Sci...232..193N.CiteSeerX 10.1.1.461.5915.doi:10.1126/science.2937147.PMID 2937147.
^Fitzgibbon J, Appukuttan B, Gayther S, Wells D, Delhanty J, Hunt DM (Feb 1994). "Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32".Hum Genet.93 (1):79–80.doi:10.1007/bf00218919.PMID 8270261.S2CID 43548690.
^"Entrez Gene: OPN1SW opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)".
^^a ^b ^c"OPN1SW gene: MedlinePlus Genetics".

Applebury ML, Hargrave PA (1987). "Molecular biology of the visual pigments".Vision Res.26 (12):1881–95.doi:10.1016/0042-6989(86)90115-X.PMID 3303660.S2CID 34038855.
Swanson WH, Cohen JM (2003). "Color vision".Ophthalmology Clinics of North America.16 (2):179–203.doi:10.1016/S0896-1549(03)00004-X.PMID 12809157.
Weitz CJ, Went LN, Nathans J (1992)."Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment".Am. J. Hum. Genet.51 (2):444–6.PMC 1682686.PMID 1386496.
Weitz CJ, Miyake Y, Shinzato K, et al. (1992)."Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin".Am. J. Hum. Genet.50 (3):498–507.PMC 1684278.PMID 1531728.
Oprian DD, Asenjo AB, Lee N, Pelletier SL (1992). "Design, chemical synthesis, and expression of genes for the three human color vision pigments".Biochemistry.30 (48):11367–72.doi:10.1021/bi00112a002.PMID 1742276.
Sarkar G, Sommer SS (1989). "Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity".Science.244 (4902):331–4.Bibcode:1989Sci...244..331S.doi:10.1126/science.2565599.PMID 2565599.
Nathans J, Piantanida TP, Eddy RL, et al. (1986). "Molecular genetics of inherited variation in human color vision".Science.232 (4747):203–10.Bibcode:1986Sci...232..203N.doi:10.1126/science.3485310.PMID 3485310.
Shimmin LC, Mai P, Li WH (1997). "Sequences and evolution of human and squirrel monkey blue opsin genes".J. Mol. Evol.44 (4):378–82.Bibcode:1997JMolE..44..378S.doi:10.1007/PL00006157.PMID 9089077.S2CID 6425474.
Scherer SW, Cheung J, MacDonald JR, et al. (2003)."Human Chromosome 7: DNA Sequence and Biology".Science.300 (5620):767–72.Bibcode:2003Sci...300..767S.doi:10.1126/science.1083423.PMC 2882961.PMID 12690205.
Gunther KL, Neitz J, Neitz M (2006). "A novel mutation in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect".Vis. Neurosci.23 (3–4):403–9.doi:10.1017/S0952523806233169.PMID 16961973.S2CID 3748083.

Cell surface receptor:G protein-coupled receptors

Class A:Rhodopsin-like

Neurotransmitter

Adrenergic	α1 (A B D) α2 (A B C) β1 β2 β3
Purinergic	Adenosine (A1 A2A A2B A3) P2Y (1 2 4 5 6 8 9 10 11 12 13 14)
Serotonin	(all but5-HT3)5-HT1 (A B D E F) 5-HT2 (A B C) 5-HT (4 5A 6 7)
Other	Acetylcholine (M1 M2 M3 M4 M5) Dopamine D1 D2 D3 D4 D5 GHB receptor Histamine H1 H2 H3 H4 Melatonin (1A 1B 1C) TAAR (1 2 5 6 8 9)

Metabolites and
signaling molecules

Eicosanoid	CysLT (1 2) LTB4 1 2 FPRL1 OXE Prostaglandin DP (1 2),EP (1 2 3 4),FP Prostacyclin Thromboxane
Other	Bile acid Cannabinoid (CB1 CB2,GPR (18 55 119)) EBI2 Estrogen Free fatty acid (1 2 3 4) Hydroxycarboxylic acids 1 2 3 Lysophosphatidic acid (1 2 3 4 5 6) Lysophospholipid (1 2 3 4 5 6 7 8) Oxoglutarate PAF Sphingosine-1-phosphate (1 2 3 4 5) Succinate

Peptide

Neuropeptide

B/W (1
2)
FF (1
2)
S
Y (1
2
4
5)
Neuromedin (B
U (1
2))
Neurotensin (1
2)

Other

Anaphylatoxin (C3a
C5a (1
2))
Angiotensin (1
2)
Apelin
Bombesin
- BRS3
- GRPR
- NMBR)
- Bradykinin (B1
- B2)
Chemerin
- 1
- 2
Chemokine
Cholecystokinin (A
B)
Endothelin
- A
- B
Formyl peptide (1
2
3)
FSH
Galanin (1
2
3)
Gonadotropin-releasing hormone (1
2)
Ghrelin
Kisspeptin
Luteinizing hormone/choriogonadotropin
MAS (1
1L
D
E
F
G
X1
X2
X3
X4)
Melanocortin (1
2
3
4
5)
MCHR (1
2)
Motilin
Opioid (Delta
Kappa
Mu
Nociceptin &Zeta, but notSigma)
Orexin (1
2)
Oxytocin
Prokineticin (1
2)
Prolactin-releasing peptide
Relaxin (1
2
3
4)
Somatostatin (1
2
3
4
5)
Tachykinin (1
2
3)
Thyrotropin
Thyrotropin-releasing hormone
Urotensin-II
Vasopressin (1A
1B
2)

Miscellaneous

Taste, bitter	TAS2R 1 3 4 5 7 8 9 10 13 14 16 19 20 30 31 38 39 40 41 42 43 45 46 50 60 Vomeronasal receptor type 1
Orphan	GPR (3 4 6 12 15 17 18 19 20 21 22 26 27 31 32 33 34 35 37 39 42 45 50 52 55 61 62 63 65 68 75 78 82 83 84 85 87 88 101 103 109A 119 132 135 137B 139 141 142 146 148 149 150 151 152 153 160 161 162 171 173 174 176 177 182 183)
Other	Adrenomedullin Olfactory Opsin (3 4 5 1LW 1MW 1SW RGR RRH) Protease-activated (1 2 3 4) SREB (1 2 3)

Class B:Secretin-like

Adhesion	ADGRB Brain-specific angiogenesis inhibitor 1 2 3 ADGRC Cadherin 1 2 3 ADGRE EMR 1 2 3 CD97 ADGRG 1 2 3 4 5 6 7 ADGRL Latrophilin 1 2 3 ELTD1
Orphan	GPR (56 64 97 98 110 111 112 113 114 115 116 123 124 125 126 128 133 143 144 155 157)
Other	Calcitonin CALCRL Corticotropin-releasing hormone (1 2) Glucagon (GR GIPR GLP1R GLP2R) Growth-hormone-releasing hormone PACAPR1 GPR Methuselah-like proteins Parathyroid hormone (1 2) Secretin Vasoactive intestinal peptide (1 2)

Class C:Metabotropic glutamate /pheromone

Taste, sweet	TAS1R 1 2 3 Vomeronasal receptor, type 2
Other	Calcium-sensing receptor GABA_B (1 2) Glutamate receptor (Metabotropic glutamate (1 2 3 4 5 6 7 8)) GPRC6A GPR (156 158 179) RAIG (1 2 3 4)