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UniProtKB - P04001 (OPSG_HUMAN)

Protein

Medium-wave-sensitive opsin 1

Gene

OPN1MW

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Absorptioni

Abs(max)=530 nm1 Publication

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 ...

Keywordsi

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

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

Names & Taxonomyi

Protein namesi
Recommended name:
Medium-wave-sensitive opsin 1Curated
Alternative name(s):
Green cone photoreceptor pigment
Green-sensitive opsin
Short name:
GOP
Gene namesi
Name:OPN1MWImported
Synonyms:GCP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000166160.9
HostDB:ENSG00000268221.5
HGNCiHGNC:4206 OPN1MW
MIMi300821 gene
neXtProtiNX_P04001

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
Topological domaini1 – 52ExtracellularCuratedAdd BLAST52
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

Pathology & Biotechi

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
Natural variantiVAR_06405194N → K in CBD. 1 PublicationCorresponds to variant dbSNP:rs104894915EnsemblClinVar.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
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

DisGeNETi101060233
107984055
2652
728458
GeneReviewsiOPN1MW
MalaCardsiOPN1MW
MIMi303700 phenotype
303800 phenotype
OpenTargetsiENSG00000268221
Orphaneti16 Blue cone monochromatism
1872 Cone rod dystrophy
319698 Partial color blindness, deutan type
PharmGKBiPA142671229

Polymorphism and mutation databases

BioMutaiOPN1MW
DMDMi129215

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001977851 – 364Medium-wave-sensitive opsin 1Add BLAST364

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi34N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi126 ↔ 203PROSITE-ProRule annotation
Modified residuei312N6-(retinylidene)lysineCurated1

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

PRIDEiP04001
ProteomicsDBi51631

PTM databases

iPTMnetiP04001
PhosphoSitePlusiP04001

Expressioni

Tissue specificityi

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

Gene expression databases

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

Interactioni

Subunit structurei

Monomer. Homodimer. Homotetramer.1 Publication

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Structurei

3D structure databases

ProteinModelPortaliP04001
SMRiP04001
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3656 Eukaryota
ENOG410XRW9 LUCA
HOGENOMiHOG000253932
HOVERGENiHBG107442
InParanoidiP04001
KOiK04251
OrthoDBiEOG091G0BDA
PhylomeDBiP04001
TreeFamiTF324998

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

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.iShow 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
Checksum:iA98D046958C72AE9
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
P0DN77OPSG2_HUMAN
Medium-wave-sensitive opsin 2
OPN1MW2
364Annotation score:
H0Y642H0Y642_HUMAN
Medium-wave-sensitive opsin 1
OPN1MW OPN1MW2
164Annotation score:

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:
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

Genome annotation databases

EnsembliENST00000595290; ENSP00000472316; ENSG00000268221
GeneIDi101060233
2652
728458
KEGGihsa:101060233
hsa:107984055
hsa:2652
hsa:728458
UCSCiuc004fkb.4 human

Similar proteinsi

Cross-referencesi

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

GPCRDBiSearch...

PTM databases

iPTMnetiP04001
PhosphoSitePlusiP04001

Polymorphism and mutation databases

BioMutaiOPN1MW
DMDMi129215

Proteomic databases

PRIDEiP04001
ProteomicsDBi51631

Protocols and materials databases

DNASUi2652
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000595290; ENSP00000472316; ENSG00000268221
GeneIDi101060233
2652
728458
KEGGihsa:101060233
hsa:107984055
hsa:2652
hsa:728458
UCSCiuc004fkb.4 human

Organism-specific databases

CTDi101060233
2652
728458
DisGeNETi101060233
107984055
2652
728458
EuPathDBiHostDB:ENSG00000166160.9
HostDB:ENSG00000268221.5
GeneCardsiOPN1MW
GeneReviewsiOPN1MW
H-InvDBiHIX0056274
HGNCiHGNC:4206 OPN1MW
MalaCardsiOPN1MW
MIMi300821 gene
303700 phenotype
303800 phenotype
neXtProtiNX_P04001
OpenTargetsiENSG00000268221
Orphaneti16 Blue cone monochromatism
1872 Cone rod dystrophy
319698 Partial color blindness, deutan type
PharmGKBiPA142671229
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3656 Eukaryota
ENOG410XRW9 LUCA
HOGENOMiHOG000253932
HOVERGENiHBG107442
InParanoidiP04001
KOiK04251
OrthoDBiEOG091G0BDA
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

GeneWikiiOPN1MW
PROiPR:P04001
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiOPSG_HUMAN
AccessioniPrimary (citable) accession number: P04001
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 1986
Last sequence update: October 23, 1986
Last modified: September 12, 2018
This is version 179 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health

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