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UniProtKB - P04001 (OPSG_HUMAN)

Protein

Medium-wave-sensitive opsin 1

Gene

OPN1MW

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal.3 Publications

Caution

Medium-wave-sensitive opsin genes vary in number among individuals and, together with a single red pigment gene, reside in a head-to-tail tandem array within the X chromosome. In the GRCh38 reference genome assembly, there are 3 genes in tandem coding for identical proteins AC P04001, AC P0DN77 and P0DN78.Curated

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Absorptioni

Abs(max)=530 nm1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • G protein-coupled photoreceptor activity Source: GO_Central
  • identical protein binding Source: UniProtKB
  • photoreceptor activity Source: CACAO
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionG-protein coupled receptor, Photoreceptor protein, Receptor, Retinal protein, Transducer
Biological processSensory transduction, Vision
LigandChromophore

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2187335 The retinoid cycle in cones (daylight vision)
R-HSA-2453864 Retinoid cycle disease events
R-HSA-418594 G alpha (i) signalling events
R-HSA-419771 Opsins

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Medium-wave-sensitive opsin 1Curated
Alternative name(s):
Green cone photoreceptor pigment
Green-sensitive opsin
Short name:
GOP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:OPN1MWImported
Synonyms:GCP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000166160.9
HostDB:ENSG00000268221.5

Human Gene Nomenclature Database

More...HGNCi		HGNC:4206 OPN1MW

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300821 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P04001

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 52ExtracellularCuratedAdd BLAST52
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei53 – 77Helical; Name=1Sequence analysisAdd BLAST25
Topological domaini78 – 89CytoplasmicCuratedAdd BLAST12
Transmembranei90 – 115Helical; Name=2Sequence analysisAdd BLAST26
Topological domaini116 – 129ExtracellularCuratedAdd BLAST14
Transmembranei130 – 149Helical; Name=3Sequence analysisAdd BLAST20
Topological domaini150 – 168CytoplasmicCuratedAdd BLAST19
Transmembranei169 – 192Helical; Name=4Sequence analysisAdd BLAST24
Topological domaini193 – 218ExtracellularCuratedAdd BLAST26
Transmembranei219 – 246Helical; Name=5Sequence analysisAdd BLAST28
Topological domaini247 – 268CytoplasmicCuratedAdd BLAST22
Transmembranei269 – 292Helical; Name=6Sequence analysisAdd BLAST24
Topological domaini293 – 300ExtracellularCurated8
Transmembranei301 – 325Helical; Name=7Sequence analysisAdd BLAST25
Topological domaini326 – 364CytoplasmicCuratedAdd BLAST39

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Colorblindness, partial, deutan series (CBD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA color vision defect characterized by a dichromasy in which red and green are confused, without loss of luminance or shift or shortening of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia.
See also OMIM:303800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06405194N → K in CBD. 1 PublicationCorresponds to variant dbSNP:rs104894915EnsemblClinVar.1
Natural variantiVAR_004841203C → R in CBD and BCM. 2 PublicationsCorresponds to variant dbSNP:rs104894914EnsemblClinVar.1
Natural variantiVAR_064053330R → Q in CBD. 1 PublicationCorresponds to variant dbSNP:rs104894916EnsemblClinVar.1
Blue cone monochromacy (BCM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia.
See also OMIM:303700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_004841203C → R in CBD and BCM. 2 PublicationsCorresponds to variant dbSNP:rs104894914EnsemblClinVar.1
Cone dystrophy 5 (COD5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.
See also OMIM:303700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064052177W → R in COD5; results in protein misfolding and retention in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs267606927EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		101060233
107984055
2652
728458

MalaCards human disease database

More...MalaCardsi		OPN1MW
MIMi303700 phenotype
303800 phenotype

Open Targets

More...OpenTargetsi		ENSG00000268221

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		16 Blue cone monochromatism
1872 Cone rod dystrophy
319698 NON RARE IN EUROPE: Partial color blindness, deutan type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671229

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		OPN1MW

Domain mapping of disease mutations (DMDM)

More...DMDMi		129215

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001977851 – 364Medium-wave-sensitive opsin 1Add BLAST364

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi34N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi126 ↔ 203PROSITE-ProRule annotation
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei312N6-(retinylidene)lysineCurated1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PRoteomics IDEntifications database

More...PRIDEi		P04001

ProteomicsDB human proteome resource

More...ProteomicsDBi		51631

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P04001

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P04001

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

The three color pigments are found in the cone photoreceptor cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000166160 Expressed in 4 organ(s), highest expression level in skin of leg

CleanEx database of gene expression profiles

More...CleanExi		HS_OPN1MW
HS_OPN1MW2

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P04001 baseline

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P04001 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer. Homodimer. Homotetramer.1 Publication

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1KPWmodel-A1-364[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P04001

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P04001

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3656 Eukaryota
ENOG410XRW9 LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000253932

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG107442

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P04001

KEGG Orthology (KO)

More...KOi		K04251

Database of Orthologous Groups

More...OrthoDBi		129373at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P04001

TreeFam database of animal gene trees

More...TreeFami		TF324998

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR001760 Opsin
IPR000378 Opsin_red/grn
IPR027430 Retinal_BS

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00001 7tm_1, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00237 GPCRRHODOPSN
PR00238 OPSIN
PR00575 OPSINREDGRN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01381 7TM_GPCR_Srsx, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit
PS00238 OPSIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P04001-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAQQWSLQRL AGRHPQDSYE DSTQSSIFTY TNSNSTRGPF EGPNYHIAPR 
        60         70         80         90        100
WVYHLTSVWM IFVVIASVFT NGLVLAATMK FKKLRHPLNW ILVNLAVADL 
       110        120        130        140        150
AETVIASTIS VVNQVYGYFV LGHPMCVLEG YTVSLCGITG LWSLAIISWE 
       160        170        180        190        200
RWMVVCKPFG NVRFDAKLAI VGIAFSWIWA AVWTAPPIFG WSRYWPHGLK 
       210        220        230        240        250
TSCGPDVFSG SSYPGVQSYM IVLMVTCCIT PLSIIVLCYL QVWLAIRAVA 
       260        270        280        290        300
KQQKESESTQ KAEKEVTRMV VVMVLAFCFC WGPYAFFACF AAANPGYPFH 
       310        320        330        340        350
PLMAALPAFF AKSATIYNPV IYVFMNRQFR NCILQLFGKK VDDGSELSSA 
       360 
SKTEVSSVSS VSPA
Length:364
Mass (Da):40,584
Last modified:October 23, 1986 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA98D046958C72AE9
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y642H0Y642_HUMAN
Medium-wave-sensitive opsin 1
OPN1MW OPN1MW2
164Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06405194N → K in CBD. 1 PublicationCorresponds to variant dbSNP:rs104894915EnsemblClinVar.1
Natural variantiVAR_064052177W → R in COD5; results in protein misfolding and retention in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs267606927EnsemblClinVar.1
Natural variantiVAR_004841203C → R in CBD and BCM. 2 PublicationsCorresponds to variant dbSNP:rs104894914EnsemblClinVar.1
Natural variantiVAR_064053330R → Q in CBD. 1 PublicationCorresponds to variant dbSNP:rs104894916EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
K03494
, M13306, K03490, K03491, K03492, K03493 Genomic DNA Translation: AAB59503.1
K03497, K03495, K03496 Genomic DNA Translation: AAB59525.1 Sequence problems.
AC244097 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14743.1
CCDS35447.1

Protein sequence database of the Protein Information Resource

More...PIRi		A03158 OOHUG

NCBI Reference Sequences

More...RefSeqi		NP_000504.1, NM_000513.2
NP_001041646.1, NM_001048181.2
NP_001316996.1, NM_001330067.1
XP_016855469.1, XM_016999980.1

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.247787
Hs.571751

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000595290; ENSP00000472316; ENSG00000268221

Database of genes from NCBI RefSeq genomes

More...GeneIDi		101060233
2652
728458

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:101060233
hsa:2652
hsa:728458

UCSC genome browser

More...UCSCi		uc004fkb.4 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mutations of the color pigment genes

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
K03494
, M13306, K03490, K03491, K03492, K03493 Genomic DNA Translation: AAB59503.1
K03497, K03495, K03496 Genomic DNA Translation: AAB59525.1 Sequence problems.
AC244097 Genomic DNA No translation available.
CCDSiCCDS14743.1
CCDS35447.1
PIRiA03158 OOHUG
RefSeqiNP_000504.1, NM_000513.2
NP_001041646.1, NM_001048181.2
NP_001316996.1, NM_001330067.1
XP_016855469.1, XM_016999980.1
UniGeneiHs.247787
Hs.571751

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1KPWmodel-A1-364[»]
ProteinModelPortaliP04001
SMRiP04001
ModBaseiSearch...
MobiDBiSearch...

Protein family/group databases

Information system for G protein-coupled receptors (GPCRs)

More...GPCRDBi		Search...

PTM databases

iPTMnetiP04001
PhosphoSitePlusiP04001

Polymorphism and mutation databases

BioMutaiOPN1MW
DMDMi129215

Proteomic databases

PRIDEiP04001
ProteomicsDBi51631

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		2652
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000595290; ENSP00000472316; ENSG00000268221
GeneIDi101060233
2652
728458
KEGGihsa:101060233
hsa:2652
hsa:728458
UCSCiuc004fkb.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		101060233
2652
728458
DisGeNETi101060233
107984055
2652
728458
EuPathDBiHostDB:ENSG00000166160.9
HostDB:ENSG00000268221.5

GeneCards: human genes, protein and diseases

More...GeneCardsi		OPN1MW

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0056274
HGNCiHGNC:4206 OPN1MW
MalaCardsiOPN1MW
MIMi300821 gene
303700 phenotype
303800 phenotype
neXtProtiNX_P04001
OpenTargetsiENSG00000268221
Orphaneti16 Blue cone monochromatism
1872 Cone rod dystrophy
319698 NON RARE IN EUROPE: Partial color blindness, deutan type
PharmGKBiPA142671229

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3656 Eukaryota
ENOG410XRW9 LUCA
HOGENOMiHOG000253932
HOVERGENiHBG107442
InParanoidiP04001
KOiK04251
OrthoDBi129373at2759
PhylomeDBiP04001
TreeFamiTF324998

Enzyme and pathway databases

ReactomeiR-HSA-2187335 The retinoid cycle in cones (daylight vision)
R-HSA-2453864 Retinoid cycle disease events
R-HSA-418594 G alpha (i) signalling events
R-HSA-419771 Opsins

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		OPN1MW

Protein Ontology

More...PROi		PR:P04001

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000166160 Expressed in 4 organ(s), highest expression level in skin of leg
CleanExiHS_OPN1MW
HS_OPN1MW2
ExpressionAtlasiP04001 baseline
GenevisibleiP04001 HS

Family and domain databases

InterProiView protein in InterPro
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR001760 Opsin
IPR000378 Opsin_red/grn
IPR027430 Retinal_BS
PfamiView protein in Pfam
PF00001 7tm_1, 1 hit
PRINTSiPR00237 GPCRRHODOPSN
PR00238 OPSIN
PR00575 OPSINREDGRN
SMARTiView protein in SMART
SM01381 7TM_GPCR_Srsx, 1 hit
PROSITEiView protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit
PS00238 OPSIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiOPSG_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P04001
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 1986
Last sequence update: October 23, 1986
Last modified: January 16, 2019
This is version 183 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
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