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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

OPN1SW Gene

protein-coding GIFtS: 59
GCID: GC07M128412

opsin 1 (cone pigments), short-wave-sensitive

(Previous name: blue cone photoreceptor pigment )
(Previous symbol: BCP)

Explore 7 diseases affiliated with
OPN1SW via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Opsin 1 (Cone Pigments), Short-Wave-Sensitive¹ ²		CBT¹ ² ⁵
BCP¹ ² ³ ⁵		Blue-Sensitive Opsin² ³
Blue Cone Photoreceptor Pigment¹ ² ³		Short-Wave-Sensitive Opsin 1²
BOP¹ ² ³

External Ids:	HGNC: 1012¹	Entrez Gene: 611²	Ensembl: ENSG00000128617⁷	OMIM: 613522⁵	UniProtKB: P03999³

Export aliases for OPN1SW gene to outside databases

Previous GC identifers: GC07M126889 GC07M127952 GC07M127966 GC07M128006 GC07M128199 GC07M122773

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for OPN1SW:

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)

UniProtKB/Swiss-Prot: OPSB_HUMAN, P03999

Function: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin,

covalently linked to cis-retinal

Gene Wiki entry for OPN1SW

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the OPN1SW gene promoter:
GR USF1 p53 AP-1 ATF-2 GR-beta USF-1 GR-alpha c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: OPN1SW promoter sequence

Search SABiosciences Chromatin IP Primers for OPN1SW

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OPN1SW

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q32.1 Ensembl cytogenetic band: 7q32.1 HGNC cytogenetic band: 7q31.3-q32

OPN1SW Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OPN1SW gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M128412: view genomic region (about GC identifiers)

Start:	128,412,543 bp from pter	End:	128,415,844 bp from pter
Size:	3,302 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 127,795,527-127,798,828

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: OPSB_HUMAN, P03999 (See protein sequence)

Recommended Name: Short-wave-sensitive opsin 1

Size: 348 amino acids; 39135 Da

Subcellular location: Membrane; Multi-pass membrane protein

1 PDB 3D structure from and Proteopedia for OPN1SW:

1KPN (3D)

Secondary accessions: Q13877

Explore the universe of human proteins at neXtProt for OPN1SW: NX_P03999

Post-translational modifications:

Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P03999

OPN1SW Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001699.1

ENSEMBL proteins:

ENSP00000249389

Reactome Protein details: P03999
Human Recombinant Protein Products for OPN1SW:

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	Uscn Proteins for OPN1SW

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001750	photoreceptor outer segment	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	9089077

OPN1SW for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for OPN1SW

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

OPN1SW for domains About GeneDecksing

4 InterPro domains/families:

IPR017452 GPCR_Rhodpsn_7TM

IPR001760 Opsin

IPR001521 Opsin_blue

IPR000276 GPCR_Rhodpsn

Graphical View of Domain Structure for InterPro Entry P03999

ProtoNet protein and cluster: P03999

2 Blocks protein families:

IPB001521 Blue-sensitive opsin signature

IPB001760 Opsin

UniProtKB/Swiss-Prot: OPSB_HUMAN, P03999

Similarity: Belongs to the G-protein coupled receptor 1 family. Opsin subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: OPSB_HUMAN, P03999

Function: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin,

covalently linked to cis-retinal

Biophysicochemical properties: Absorption: Abs(max)=420 nm;

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	TAS	2937147
GO:0004930	G-protein coupled receptor activity	IEA	--
GO:0009881	photoreceptor activity	IEA	--

OPN1SW for ontologies About GeneDecksing

Phenotypes:
4 GenomeRNAi human phenotypes for OPN1SW:

Decreased influenza A H1N1 (A/

Decreased influenza A/WSN/33 r

Increased gamma-H2AX phosphory

2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Opn1sw):

nervous system

vision/eye

OPN1SW for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for OPN1SW

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OPN1SW
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		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OPN1SW (see all 7) OriGene shRNA RFP: OPN1SW OriGene siRNA: OPN1SW
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for OPN1SW
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OPN1SW (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OPN1SW OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: OPN1SW (NM_001708)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPN1SW

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Defective OPN1LW causes CBP

Defective OPN1LW causes CBP	1.00	Defective OPN1MW causes DCB and BCM	0.50
Defective OPN1LW causes BCM	1.00	The retinoid cycle in cones (daylight vision)	0.50
Defective OPN1MW causes COD5	0.50	Retinoid cycle disease events	0.33

Class A/1 (Rhodopsin-like receptors)

	Class A/1 (Rhodopsin-like receptors)	1.00			G alpha (i) signalling events	0.44
	GPCR ligand binding	0.75			GPCRs, Class A Rhodopsin-like	0.41

Signaling by GPCR

	Signaling by GPCR	1.00			Signal Transduction	0.56
	GPCR downstream signaling	0.89

Retinoid metabolism and transport

Visual phototransduction

0.74

Diseases associated with visual transduction

0.73

Opsins

Opsins

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for OPN1SW

GPCRs, Class A Rhodopsin-like

5/16 Reactome Pathways for OPN1SW (see all 16)

	GPCR downstream signaling
	Diseases associated with visual transduction
	The retinoid cycle in cones (daylight vision)
	Retinoid cycle disease events
	Defective OPN1MW causes DCB and BCM

OPN1SW for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for OPN1SW

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for OPN1SW (ENSP00000249389⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GNAT1	ENSP00000232461⁴	STRING: ENSP00000232461
GNAT2	ENSP00000251337⁴	STRING: ENSP00000251337
RHO	ENSP00000296271⁴	STRING: ENSP00000296271
GNG2	ENSP00000334448⁴	STRING: ENSP00000334448

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	TAS	2937147
GO:0007601	visual perception	IEA	--
GO:0007602	phototransduction	IEA	--
GO:0018298	protein-chromophore linkage	IEA	--

OPN1SW for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

OPN1SW for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for OPN1SW
2 Novoseek chemical compound relationships for OPN1SW gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
bacterioopsin	89.9	4	14653583 (2), 1479357 (1)
bacteriorhodopsin	81.4	6	1479357 (1), 8932303 (1), 12586385 (1), 14653583 (1)

Search CenterWatch for drugs/clinical trials and news about OPN1SW / OPSB

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for OPN1SW gene:

NM_001708.2

Unigene Cluster for OPN1SW:

Opsin 1 (cone pigments), short-wave-sensitive

Hs.656404 [show with all ESTs]

Unigene Representative Sequence: NM_001708

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000249389(uc003vnt.4)

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OPN1SW
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		Sirion Biotech Custom design and validation of potent shRNA sequences against OPN1SW

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		GenScript: all cDNA clones in your preferred vector: OPN1SW (NM_001708)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OPN1SW
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OPN1SW

Additional cDNA sequence:

DQ822478.1 M26172.1

3 DOTS entries:

DT.95072231 DT.95202996 DT.121047092

10 AceView cDNA sequences:

BM666330 NM_001708 CR599610 BM695152 CA420129 BQ189052 AW839178 M26172

AL524418 BX369013

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

OPN1SW expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGCTCCCAG

About this image

OPN1SW expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature M-S Cone Cells

Selective marker (cell-identifying gene)

Photoreceptors, Retina

Eye

Outer Nuclear Layer

Mature S Cone Cells

Photoreceptors, Retina

Eye

Outer Nuclear Layer

Mature M Cone Cells

Photoreceptors, Retina

Eye

Outer Nuclear Layer

Rod Precursor Cells

Photoreceptors, Retina

Eye

Outer Nuclear Layer

Cone Precursor Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

Photoreceptor-like cells (Differentiation of h...)

Retinal progenitor-like cells (Generation of retina...)

Photoreceptors-like cells (Generation of photor...)

Photoreceptor-like cells (Generation of retina...)

Eye

Retina-like cells (Generation of retina...)

See OPN1SW Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for OPN1SW

SOURCE GeneReport for Unigene cluster: Hs.656404

UniProtKB/Swiss-Prot: OPSB_HUMAN, P03999

Tissue specificity: The three color pigments are found in the cone photoreceptor cells

SABiosciences Expression via Pathway-Focused PCR Array including OPN1SW:

G Protein Coupled Receptors 384HT in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for OPN1SW gene from 4/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	Q9W6J6_ANOCA⁶ -- (see all 3)	--	84(a) 34(a) (see all 3)	1 ↔ 1 possible ortholog (see all 3)	GL343828.1(107252-120175) 2(160603849-160631727)
African clawed frog (Xenopus laevis)	Amphibia	opn1sw-A²	violet cone opsin	72.5(n)		U23463.1
zebrafish (Danio rerio)	Actinopterygii	opn1sw2²	opsin 1 (cone pigments), short-wave-sensitive, 2	77.16(n)		30582 AF109373.1
honey bee (Apis mellifera)	Insecta	--	Pteropsin	24(a)	1 → many	Group9.2(283911-292747)

ENSEMBL Gene Tree for OPN1SW (if available)
TreeFam Gene Tree for OPN1SW (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for OPN1SW gene

OPN3² OPN1MW² RHO² RGR² OPN4² OPN1MW2² RRH² OPN1LW²

OPN5²

5 SIMAP similar genes for OPN1SW using alignment to 2 protein entries: OPSB_HUMAN (see all proteins):

RHO DKFZp781I1948 OPN1LW OPN1MW OPN1MW2

OPN1SW for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12112071^1,2	F,H	--	127795790(+)	`GCACAA/GTGCTT`	1	--	int¹		5		NS EA WA	536
rs104894033^1,2	C	--	127796824(-)	`ACGTGC/TCCTAC`	2	P S	mis¹		0	--	--	--	--
rs73238105^1,2	C,F	--	127797031(+)	`AGACCG/AAGTCT`	1	--	int¹		1		NA	120
rs104894032^1,2	C	--	127797583(-)	`CTCTCC/TCCCTC`	2	P S	mis¹		0	--	--	--	--
rs77697093^1,2	F	--	127797885(+)	`ACTTGT/CCTCCC`	1	--	int¹		1		WA	118
rs4612284^1,2	H	--	127797920(+)	`ACTCTT/ATAAAA`	1	--	int¹		4		NS EA	416
rs73467169^1,2	C,F	--	127797931(+)	`GTAGAG/CGTCAA`	1	--	int¹		5		WA CSA	126
rs143378646^1,2	C	--	127798115(+)	`GAAGCG/AGAAGT`	2	/R /C	mis¹		1		NA	4552
rs762659^1,2	H	--	127798210(-)	`ATTATC/TCTCAC`	1	--	int¹		5		NA NS EA	502
rs74947853^1,2	F	--	127798360(+)	`TGCTTT/CGTACC`	1	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for OPN1SW (128412543 - 128415844 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for OPN1SW
2 CNVs: 70039 4559
Human Gene Mutation Database (HGMD): OPN1SW

Locus Specific Mutation Databases (LSDB): OPN1SW

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OPN1SW

DNA2.0 Custom Variant and Variant Library Synthesis for OPN1SW

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OPN1SW for disorders           About GeneDecksing

OMIM gene information: 613522
OMIM disorders: 190900
UniProtKB/Swiss-Prot: OPSB_HUMAN, P03999

Defects in OPN1SW are the cause of tritan color blindness (CBT) [MIM:190900]

7 diseases for OPN1SW: About MalaCards

color blindness colorblindness, tritan blindness bardet-biedl syndrome

eye disease retinal disease retinitis

Genetic Association Database (GAD): OPN1SW
Human Genome Epidemiology (HuGE) Navigator: OPN1SW (1 document)

Export disorders for OPN1SW gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for OPN1SW gene, integrated from 9 sources (see all 25):
(articles sorted by number of sources associating them with OPN1SW)

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Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. (PubMed id 1531728)^{1, 2, 4} Weitz C.J....Nathans J. (1992)
Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. (PubMed id 2937147)^{1, 2, 3} Nathans J.... Hogness D.S. (1986)
Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32. (PubMed id 8270261)^{1, 3, 9} Fitzgibbon J....Hunt D.M. (1994)
Sequences and evolution of human and squirrel monkey blue opsin genes. (PubMed id 9089077)^{1, 2} Shimmin L.C.... Li W.H. (1997)
Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. (PubMed id 1386496)^{1, 2} Weitz C.J.... Nathans J. (1992)
Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity. (PubMed id 2565599)^{1, 2} Sarkar G. and Sommer S.S. (1989)
Molecular biology of the visual pigments. (PubMed id 3303660)^{1, 2} Applebury M.L. and Hargrave P.A. (1986)
Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. (PubMed id 20801516)¹ Booij J.C....Florijn R.J. (2010)
Low-frequency vibrational modes and infrared absorban ce of red, blue and green opsin. (PubMed id 19189139)¹ Thirumuruganandham S.P. and Urbassek H.M. (2009)
The action of 11-cis-retinol on cone opsins and intac t cone photoreceptors. (PubMed id 19386593)¹ Ala-Laurila P....Kono M. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 611	HGNC: 1012	AceView: OPN1SW	Ensembl:ENSG00000128617	euGenes: HUgn611
ECgene: OPN1SW	H-InvDB: OPN1SW

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for OPN1SW	Pharmacogenomics, SNPs, Pathways
Mutations of the color pigment genes	http://www.retina-international.org/files/sci-news/cppmut.htm

Intellectual Property for OPN1SW gene
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Patent Information for OPN1SW gene:
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OPN1SW Gene

opsin 1 (cone pigments), short-wave-sensitive

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OPN1SW Gene

opsin 1 (cone pigments), short-wave-sensitive

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