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P04001

- OPSG_HUMAN

UniProt

P04001 - OPSG_HUMAN

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Protein

Medium-wave-sensitive opsin 1

Gene
OPN1MW, GCP
OPN1MW2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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.

Absorptioni

Abs(max)=530 nm

GO - Molecular functioni

  1. G-protein coupled receptor activity Source: UniProtKB-KW
  2. photoreceptor activity Source: ProtInc

GO - Biological processi

  1. G-protein coupled receptor signaling pathway Source: ProtInc
  2. phototransduction, visible light Source: Reactome
  3. positive regulation of cytokinesis Source: UniProt
  4. protein-chromophore linkage Source: UniProtKB-KW
  5. retinoid metabolic process Source: Reactome
  6. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Photoreceptor protein, Receptor, Retinal protein, Transducer

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

Chromophore

Enzyme and pathway databases

ReactomeiREACT_160083. The retinoid cycle in cones (daylight vision).
REACT_160130. Retinoid cycle disease events.
REACT_18426. Opsins.
REACT_19231. G alpha (i) signalling events.

Names & Taxonomyi

Organism-specific databases

Protein namesi
Recommended name:
Medium-wave-sensitive opsin 1
Alternative name(s):
Green cone photoreceptor pigment
Green-sensitive opsin
Short name:
GOP
Gene namesi
Name:OPN1MW
Synonyms:GCP
AND
Name:OPN1MW2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X
HGNCiHGNC:4206. OPN1MW.
HGNC:26952. OPN1MW2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5252ExtracellularAdd
BLAST
Transmembranei53 – 7725Helical; Name=1; Reviewed predictionAdd
BLAST
Topological domaini78 – 8912CytoplasmicAdd
BLAST
Transmembranei90 – 11526Helical; Name=2; Reviewed predictionAdd
BLAST
Topological domaini116 – 12914ExtracellularAdd
BLAST
Transmembranei130 – 14920Helical; Name=3; Reviewed predictionAdd
BLAST
Topological domaini150 – 16819CytoplasmicAdd
BLAST
Transmembranei169 – 19224Helical; Name=4; Reviewed predictionAdd
BLAST
Topological domaini193 – 21826ExtracellularAdd
BLAST
Transmembranei219 – 24628Helical; Name=5; Reviewed predictionAdd
BLAST
Topological domaini247 – 26822CytoplasmicAdd
BLAST
Transmembranei269 – 29224Helical; Name=6; Reviewed predictionAdd
BLAST
Topological domaini293 – 3008Extracellular
Transmembranei301 – 32525Helical; Name=7; Reviewed predictionAdd
BLAST
Topological domaini326 – 36439CytoplasmicAdd
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
  2. photoreceptor outer segment membrane Source: Reactome
  3. plasma membrane Source: UniProtKB

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Colorblindness, partial, deutan series (CBD) [MIM:303800]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941N → K in CBD. 1 Publication
VAR_064051
Natural varianti203 – 2031C → R in CBD and BCM. 2 Publications
VAR_004841
Natural varianti330 – 3301R → Q in CBD. 1 Publication
VAR_064053
Blue cone monochromacy (BCM) [MIM:303700]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti203 – 2031C → R in CBD and BCM. 2 Publications
VAR_004841
Cone dystrophy 5 (COD5) [MIM:303700]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti177 – 1771W → R in COD5; results in protein misfolding and retention in the endoplasmic reticulum. 1 Publication
VAR_064052

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi303700. phenotype.
303800. phenotype.
Orphaneti16. Blue cone monochromatism.
1872. Cone rod dystrophy.
319698. Partial color blindness, deutan type.
PharmGKBiPA142671229.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 364364Medium-wave-sensitive opsin 1PRO_0000197785Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi34 – 341N-linked (GlcNAc...) Inferred
Disulfide bondi126 ↔ 203 Reviewed prediction
Modified residuei312 – 3121N6-(retinylidene)lysine

Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP04001.
PRIDEiP04001.

PTM databases

PhosphoSiteiP04001.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP04001.
CleanExiHS_OPN1MW.
HS_OPN1MW2.
GenevestigatoriP04001.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000358945.

Structurei

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1KPWmodel-A1-364[»]
ProteinModelPortaliP04001.
SMRiP04001. Positions 23-334.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG240324.
HOGENOMiHOG000253932.
HOVERGENiHBG107442.
InParanoidiP04001.
KOiK04251.
OMAiFCWGPYT.
OrthoDBiEOG72NRQJ.
PhylomeDBiP04001.
TreeFamiTF324998.

Family and domain databases

Gene3Di1.20.1070.10. 1 hit.
InterProiIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001760. Opsin.
IPR000378. Opsin_red/grn.
IPR027430. Retinal_BS.
[Graphical view]
PfamiPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSiPR00237. GPCRRHODOPSN.
PR00238. OPSIN.
PR00575. OPSINREDGRN.
PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
PS00238. OPSIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P04001-1 [UniParc]FASTAAdd to Basket

« Hide

MAQQWSLQRL AGRHPQDSYE DSTQSSIFTY TNSNSTRGPF EGPNYHIAPR    50
WVYHLTSVWM IFVVIASVFT NGLVLAATMK FKKLRHPLNW ILVNLAVADL 100
AETVIASTIS VVNQVYGYFV LGHPMCVLEG YTVSLCGITG LWSLAIISWE 150
RWMVVCKPFG NVRFDAKLAI VGIAFSWIWA AVWTAPPIFG WSRYWPHGLK 200
TSCGPDVFSG SSYPGVQSYM IVLMVTCCIT PLSIIVLCYL QVWLAIRAVA 250
KQQKESESTQ KAEKEVTRMV VVMVLAFCFC WGPYAFFACF AAANPGYPFH 300
PLMAALPAFF AKSATIYNPV IYVFMNRQFR NCILQLFGKK VDDGSELSSA 350
SKTEVSSVSS VSPA 364
Length:364
Mass (Da):40,584
Last modified:October 23, 1986 - v1
Checksum:iA98D046958C72AE9
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941N → K in CBD. 1 Publication
VAR_064051
Natural varianti177 – 1771W → R in COD5; results in protein misfolding and retention in the endoplasmic reticulum. 1 Publication
VAR_064052
Natural varianti203 – 2031C → R in CBD and BCM. 2 Publications
VAR_004841
Natural varianti330 – 3301R → Q in CBD. 1 Publication
VAR_064053

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
K03494
, M13306, K03490, K03491, K03492, K03493 Genomic DNA. Translation: AAB59503.1.
K03497, K03495, K03496 Genomic DNA. Translation: AAB59525.1. Sequence problems.
AC092402 Genomic DNA. No translation available.
Z46936 Genomic DNA. No translation available.
CCDSiCCDS14743.1.
CCDS35447.1.
PIRiA03158. OOHUG.
RefSeqiNP_000504.1. NM_000513.2.
NP_001041646.1. NM_001048181.2.
XP_003960138.1. XM_003960089.2.
XP_005276782.1. XM_005276725.1.
UniGeneiHs.247787.
Hs.571751.

Genome annotation databases

EnsembliENST00000369929; ENSP00000358945; ENSG00000166160.
ENST00000369935; ENSP00000358951; ENSG00000147380.
ENST00000595290; ENSP00000472316; ENSG00000268221.
ENST00000599007; ENSP00000470778; ENSG00000269133.
GeneIDi101060233.
2652.
728458.
KEGGihsa:101060233.
hsa:2652.
hsa:728458.
UCSCiuc004fkb.3. human.

Polymorphism databases

DMDMi129215.

Cross-referencesi

Web resourcesi

Mutations of the color pigment genes

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
K03494
, M13306 , K03490 , K03491 , K03492 , K03493 Genomic DNA. Translation: AAB59503.1 .
K03497 , K03495 , K03496 Genomic DNA. Translation: AAB59525.1 . Sequence problems.
AC092402 Genomic DNA. No translation available.
Z46936 Genomic DNA. No translation available.
CCDSi CCDS14743.1.
CCDS35447.1.
PIRi A03158. OOHUG.
RefSeqi NP_000504.1. NM_000513.2.
NP_001041646.1. NM_001048181.2.
XP_003960138.1. XM_003960089.2.
XP_005276782.1. XM_005276725.1.
UniGenei Hs.247787.
Hs.571751.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1KPW model - A 1-364 [» ]
ProteinModelPortali P04001.
SMRi P04001. Positions 23-334.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000358945.

Protein family/group databases

GPCRDBi Search...

PTM databases

PhosphoSitei P04001.

Polymorphism databases

DMDMi 129215.

Proteomic databases

PaxDbi P04001.
PRIDEi P04001.

Protocols and materials databases

DNASUi 2652.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369929 ; ENSP00000358945 ; ENSG00000166160 .
ENST00000369935 ; ENSP00000358951 ; ENSG00000147380 .
ENST00000595290 ; ENSP00000472316 ; ENSG00000268221 .
ENST00000599007 ; ENSP00000470778 ; ENSG00000269133 .
GeneIDi 101060233.
2652.
728458.
KEGGi hsa:101060233.
hsa:2652.
hsa:728458.
UCSCi uc004fkb.3. human.

Organism-specific databases

CTDi 2652.
728458.
GeneCardsi GC0XP153448.
GC0XP153485.
GeneReviewsi OPN1MW.
H-InvDB HIX0056274.
HGNCi HGNC:4206. OPN1MW.
HGNC:26952. OPN1MW2.
MIMi 300821. gene.
303700. phenotype.
303800. phenotype.
neXtProti NX_P04001.
Orphaneti 16. Blue cone monochromatism.
1872. Cone rod dystrophy.
319698. Partial color blindness, deutan type.
PharmGKBi PA142671229.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG240324.
HOGENOMi HOG000253932.
HOVERGENi HBG107442.
InParanoidi P04001.
KOi K04251.
OMAi FCWGPYT.
OrthoDBi EOG72NRQJ.
PhylomeDBi P04001.
TreeFami TF324998.

Enzyme and pathway databases

Reactomei REACT_160083. The retinoid cycle in cones (daylight vision).
REACT_160130. Retinoid cycle disease events.
REACT_18426. Opsins.
REACT_19231. G alpha (i) signalling events.

Miscellaneous databases

GeneWikii OPN1MW.
NextBioi 10480.
PROi P04001.
SOURCEi Search...

Gene expression databases

Bgeei P04001.
CleanExi HS_OPN1MW.
HS_OPN1MW2.
Genevestigatori P04001.

Family and domain databases

Gene3Di 1.20.1070.10. 1 hit.
InterProi IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001760. Opsin.
IPR000378. Opsin_red/grn.
IPR027430. Retinal_BS.
[Graphical view ]
Pfami PF00001. 7tm_1. 1 hit.
[Graphical view ]
PRINTSi PR00237. GPCRRHODOPSN.
PR00238. OPSIN.
PR00575. OPSINREDGRN.
PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
PS00238. OPSIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. "Molecular genetics of human color vision: the genes encoding blue, green, and red pigments."
    Nathans J., Thomas D., Hogness D.S.
    Science 232:193-202(1986) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Retinal cone cell.
  2. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Buck D.
    Submitted (DEC-1994) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 194-364.
  4. "Molecular biology of the visual pigments."
    Applebury M.L., Hargrave P.A.
    Vision Res. 26:1881-1895(1986) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  5. "Defective colour vision associated with a missense mutation in the human green visual pigment gene."
    Winderickx J., Sanocki E., Lindsey D.T., Teller D.Y., Motulsky A.G., Deeb S.S.
    Nat. Genet. 1:251-256(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CBD ARG-203.
  6. "Gene conversion between red and defective green opsin gene in blue cone monochromacy."
    Reyniers E., Van Thienen M.N., Meire F., De Boulle K., Devries K., Kestelijn P., Willems P.J.
    Genomics 29:323-328(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BCM ARG-203.
  7. "Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies."
    Ueyama H., Kuwayama S., Imai H., Tanabe S., Oda S., Nishida Y., Wada A., Shichida Y., Yamade S.
    Biochem. Biophys. Res. Commun. 294:205-209(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CBD LYS-94 AND GLN-330.
  8. Cited for: VARIANT COD5 ARG-177, CHARACTERIZATION OF VARIANT COD5 ARG-177.

Entry informationi

Entry nameiOPSG_HUMAN
AccessioniPrimary (citable) accession number: P04001
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 1986
Last sequence update: October 23, 1986
Last modified: September 3, 2014
This is version 145 of the entry and version 1 of the sequence. [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

Documents

  1. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi