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P04001 (OPSG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 144. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Medium-wave-sensitive opsin 1
Alternative name(s):
Green cone photoreceptor pigment
Green-sensitive opsin
Short name=GOP
Gene names
Name:OPN1MW
Synonyms:GCP
AND
Name:OPN1MW2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length364 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

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

Post-translational modification

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

Involvement in disease

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. Ref.5 Ref.7

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. Ref.6

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. Ref.8

Sequence similarities

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

Biophysicochemical properties

Absorption:

Abs(max)=530 nm

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 364364Medium-wave-sensitive opsin 1
PRO_0000197785

Regions

Topological domain1 – 5252Extracellular
Transmembrane53 – 7725Helical; Name=1; Potential
Topological domain78 – 8912Cytoplasmic
Transmembrane90 – 11526Helical; Name=2; Potential
Topological domain116 – 12914Extracellular
Transmembrane130 – 14920Helical; Name=3; Potential
Topological domain150 – 16819Cytoplasmic
Transmembrane169 – 19224Helical; Name=4; Potential
Topological domain193 – 21826Extracellular
Transmembrane219 – 24628Helical; Name=5; Potential
Topological domain247 – 26822Cytoplasmic
Transmembrane269 – 29224Helical; Name=6; Potential
Topological domain293 – 3008Extracellular
Transmembrane301 – 32525Helical; Name=7; Potential
Topological domain326 – 36439Cytoplasmic

Amino acid modifications

Modified residue3121N6-(retinylidene)lysine
Glycosylation341N-linked (GlcNAc...) Probable
Disulfide bond126 ↔ 203 Potential

Natural variations

Natural variant941N → K in CBD. Ref.7
VAR_064051
Natural variant1771W → R in COD5; results in protein misfolding and retention in the endoplasmic reticulum. Ref.8
VAR_064052
Natural variant2031C → R in CBD and BCM. Ref.5 Ref.6
VAR_004841
Natural variant3301R → Q in CBD. Ref.7
VAR_064053

Sequences

Sequence LengthMass (Da)Tools
P04001 [UniParc].

Last modified October 23, 1986. Version 1.
Checksum: A98D046958C72AE9

FASTA36440,584
        10         20         30         40         50         60 
MAQQWSLQRL AGRHPQDSYE DSTQSSIFTY TNSNSTRGPF EGPNYHIAPR WVYHLTSVWM 

        70         80         90        100        110        120 
IFVVIASVFT NGLVLAATMK FKKLRHPLNW ILVNLAVADL AETVIASTIS VVNQVYGYFV 

       130        140        150        160        170        180 
LGHPMCVLEG YTVSLCGITG LWSLAIISWE RWMVVCKPFG NVRFDAKLAI VGIAFSWIWA 

       190        200        210        220        230        240 
AVWTAPPIFG WSRYWPHGLK TSCGPDVFSG SSYPGVQSYM IVLMVTCCIT PLSIIVLCYL 

       250        260        270        280        290        300 
QVWLAIRAVA KQQKESESTQ KAEKEVTRMV VVMVLAFCFC WGPYAFFACF AAANPGYPFH 

       310        320        330        340        350        360 
PLMAALPAFF AKSATIYNPV IYVFMNRQFR NCILQLFGKK VDDGSELSSA SKTEVSSVSS 


VSPA 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"X-linked cone dystrophy caused by mutation of the red and green cone opsins."
Gardner J.C., Webb T.R., Kanuga N., Robson A.G., Holder G.E., Stockman A., Ripamonti C., Ebenezer N.D., Ogun O., Devery S., Wright G.A., Maher E.R., Cheetham M.E., Moore A.T., Michaelides M., Hardcastle A.J.
Am. J. Hum. Genet. 87:26-39(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT COD5 ARG-177, CHARACTERIZATION OF VARIANT COD5 ARG-177.
+Additional computationally mapped references.

Web resources

Mutations of the color pigment genes

Retina International's Scientific Newsletter

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
K03494 expand/collapse EMBL AC list , 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.
CCDSCCDS14743.1.
CCDS35447.1.
PIROOHUG. A03158.
RefSeqNP_000504.1. NM_000513.2.
NP_001041646.1. NM_001048181.2.
XP_003960138.1. XM_003960089.2.
XP_005276782.1. XM_005276725.1.
UniGeneHs.247787.
Hs.571751.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1KPWmodel-A1-364[»]
ProteinModelPortalP04001.
SMRP04001. Positions 23-334.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000358945.

Protein family/group databases

GPCRDBSearch...

PTM databases

PhosphoSiteP04001.

Polymorphism databases

DMDM129215.

Proteomic databases

PaxDbP04001.
PRIDEP04001.

Protocols and materials databases

DNASU2652.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369929; ENSP00000358945; ENSG00000166160.
ENST00000369935; ENSP00000358951; ENSG00000147380.
ENST00000595290; ENSP00000472316; ENSG00000268221.
ENST00000599007; ENSP00000470778; ENSG00000269133.
GeneID101060233.
2652.
728458.
KEGGhsa:101060233.
hsa:2652.
hsa:728458.
UCSCuc004fkb.3. human.

Organism-specific databases

CTD2652.
728458.
GeneCardsGC0XP153448.
GC0XP153485.
GeneReviewsOPN1MW.
H-InvDBHIX0056274.
HGNCHGNC:4206. OPN1MW.
HGNC:26952. OPN1MW2.
MIM300821. gene.
303700. phenotype.
303800. phenotype.
neXtProtNX_P04001.
Orphanet16. Blue cone monochromatism.
1872. Cone rod dystrophy.
319698. Partial color blindness, deutan type.
PharmGKBPA142671229.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG240324.
HOGENOMHOG000253932.
HOVERGENHBG107442.
InParanoidP04001.
KOK04251.
OMAFCWGPYT.
OrthoDBEOG72NRQJ.
PhylomeDBP04001.
TreeFamTF324998.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.

Gene expression databases

BgeeP04001.
CleanExHS_OPN1MW.
HS_OPN1MW2.
GenevestigatorP04001.

Family and domain databases

Gene3D1.20.1070.10. 1 hit.
InterProIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001760. Opsin.
IPR000378. Opsin_red/grn.
IPR027430. Retinal_BS.
[Graphical view]
PfamPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSPR00237. GPCRRHODOPSN.
PR00238. OPSIN.
PR00575. OPSINREDGRN.
PROSITEPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
PS00238. OPSIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiOPN1MW.
NextBio10480.
PROP04001.
SOURCESearch...

Entry information

Entry nameOPSG_HUMAN
AccessionPrimary (citable) accession number: P04001
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 1986
Last sequence update: October 23, 1986
Last modified: July 9, 2014
This is version 144 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM

7-transmembrane G-linked receptors

List of 7-transmembrane G-linked receptor entries