P03999 (OPSB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Short-wave-sensitive opsin 1

Alternative name(s):
Blue cone photoreceptor pigment
Blue-sensitive opsin
Short name=BOP

Gene names

Name:	OPN1SW
Synonyms:	BCP

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	348 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Defects in OPN1SW are the cause of tritan color blindness (CBT) [MIM:190900]. Ref.6 Ref.7
Sequence similarities	Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
Biophysicochemical properties	Absorption: Abs(max)=420 nm

Ontologies

Keywords
Biological process	Sensory transduction Vision
Cellular component	Membrane
Disease	Disease mutation
Domain	Transmembrane Transmembrane helix
Ligand	Chromophore
Molecular function	G-protein coupled receptor Photoreceptor protein Receptor Retinal protein Transducer
PTM	Disulfide bond Glycoprotein Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	phototransduction Traceable author statement. Source: ProtInc protein-chromophore linkage Inferred from electronic annotation. Source: UniProtKB-KW visual perception Traceable author statement. Source: ProtInc
Cellular component	integral to plasma membrane Traceable author statement. Source: ProtInc
Molecular function	G-protein coupled receptor activity Inferred from electronic annotation. Source: UniProtKB-KW photoreceptor activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 348

348

Short-wave-sensitive opsin 1

PRO_0000197762

Regions

Topological domain

1 – 33

33

Extracellular Potential

Transmembrane

34 – 58

25

Helical; Name=1; Potential

Topological domain

59 – 70

12

Cytoplasmic Potential

Transmembrane

71 – 96

26

Helical; Name=2; Potential

Topological domain

97 – 110

14

Extracellular Potential

Transmembrane

111 – 130

20

Helical; Name=3; Potential

Topological domain

131 – 149

19

Cytoplasmic Potential

Transmembrane

150 – 173

24

Helical; Name=4; Potential

Topological domain

174 – 199

26

Extracellular Potential

Transmembrane

200 – 227

28

Helical; Name=5; Potential

Topological domain

228 – 249

22

Cytoplasmic Potential

Transmembrane

250 – 273

24

Helical; Name=6; Potential

Topological domain

274 – 281

8

Extracellular Potential

Transmembrane

282 – 306

25

Helical; Name=7; Potential

Topological domain

307 – 348

42

Cytoplasmic Potential

Amino acid modifications

Modified residue

293

1

N6-(retinylidene)lysine

Glycosylation

14

1

N-linked (GlcNAc...) Probable

Disulfide bond

107 ↔ 184

Potential

Natural variations

Natural variant

79

1

G → R in CBT. Ref.6

VAR_004838

Natural variant

214

1

S → P in CBT. Ref.6

VAR_004839

Natural variant

264

1

P → S in CBT. Ref.3 Ref.7

VAR_004840

Experimental info

Sequence conflict

308 – 310

3

KQF → VKL Ref.4

Secondary structure

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348

Helix Strand Turn

Details...

Beta strand

3 – 5

3

Beta strand

10 – 12

3

Beta strand

20 – 23

4

Turn

26 – 28

3

Helix

31 – 61

31

Helix

68 – 86

19

Helix

88 – 97

10

Turn

101 – 103

3

Helix

104 – 137

34

Beta strand

140 – 142

3

Helix

147 – 165

19

Helix

167 – 170

4

Beta strand

175 – 178

4

Turn

179 – 182

4

Beta strand

183 – 186

4

Turn

193 – 196

4

Helix

197 – 208

12

Helix

210 – 226

17

Helix

241 – 274

34

Turn

275 – 277

3

Helix

282 – 292

11

Helix

293 – 296

4

Helix

298 – 306

9

Helix

308 – 319

12

Beta strand

331 – 334

4

Beta strand

339 – 342

4

Sequences

	Sequence		Length	Mass (Da)
	P03999 [UniParc]. Last modified October 23, 1986. Version 1. Checksum: 83FAB2E7111CB581	FASTA	348	39,135
	10 20 30 40 50 60 MRKMSEEEFY LFKNISSVGP WDGPQYHIAP VWAFYLQAAF MGTVFLIGFP LNAMVLVATL 70 80 90 100 110 120 RYKKLRQPLN YILVNVSFGG FLLCIFSVFP VFVASCNGYF VFGRHVCALE GFLGTVAGLV 130 140 150 160 170 180 TGWSLAFLAF ERYIVICKPF GNFRFSSKHA LTVVLATWTI GIGVSIPPFF GWSRFIPEGL 190 200 210 220 230 240 QCSCGPDWYT VGTKYRSESY TWFLFIFCFI VPLSLICFSY TQLLRALKAV AAQQQESATT 250 260 270 280 290 300 QKAEREVSRM VVVMVGSFCV CYVPYAAFAM YMVNNRNHGL DLRLVTIPSF FSKSACIYNP 310 320 330 340 IIYCFMNKQF QACIMKMVCG KAMTDESDTC SSQKTEVSTV SSTQVGPN

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: 2937147] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Retinal cone cell.
[2]	"Sequences and evolution of human and squirrel monkey blue opsin genes." Shimmin L.C., Mai P., Li W.H. J. Mol. Evol. 44:378-382(1997) [PubMed: 9089077] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"A point mutation in the blue cone opsin gene causes tritanopia in two autosomal dominant tritan pedigrees." Li T., Studencki A., Falk J., Smith V., Pokorny J., Went L., O'Shea R., Applebury M.L. Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT TRITANOPIA SER-264.
[4]	"Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity." Sarkar G., Sommer S.S. Science 244:331-334(1989) [PubMed: 2565599] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 272-310.
[5]	"Molecular biology of the visual pigments." Applebury M.L., Hargrave P.A. Vision Res. 26:1881-1895(1986) [PubMed: 3303660] [Abstract] Cited for: REVIEW.
[6]	"Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin." Weitz C.J., Miyake Y., Shinzato K., Montag E., Zrenner E., Went L.N., Nathans J. Am. J. Hum. Genet. 50:498-507(1992) [PubMed: 1531728] [Abstract] Cited for: VARIANTS CBT ARG-79 AND PRO-214.
[7]	"Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment." Weitz C.J., Went L.N., Nathans J. Am. J. Hum. Genet. 51:444-446(1992) [PubMed: 1386496] [Abstract] Cited for: VARIANT CBT SER-264.
+	Additional computationally mapped references.

Web resources

Mutations of the color pigment genes

Retina International's Scientific Newsletter

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

M13299 , M13295, M13296, M13297, M13298 Genomic DNA. Translation: AAB05207.1.
U53874 Genomic DNA. Translation: AAC51334.1.
L32835 Genomic DNA. Translation: AAL31362.1.
M26172 mRNA. Translation: AAA35608.1.

IPI

IPI00008604.

PIR

OOHUB. A03156.

RefSeq

NP_001699.1. NM_001708.2.

UniGene

Hs.656404.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1KPN	model	-	A	1-348	[»]

ProteinModelPortal

P03999.

SMR

P03999. Positions 8-347.

ModBase

Search...

Protein-protein interaction databases

STRING

P03999.

Protein family/group databases

GPCRDB

Search...

Polymorphism databases

DMDM

129203.

Proteomic databases

PRIDE

P03999.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000249389; ENSP00000249389; ENSG00000128617.

GeneID

611.

KEGG

hsa:611.

UCSC

uc003vnt.2. human.

Organism-specific databases

CTD

611.

GeneCards

GC07M128412.

H-InvDB

HIX0033678.

HGNC

HGNC:1012. OPN1SW.

MIM

190900. phenotype.
613522. gene.

neXtProt

NX_P03999.

Orphanet

88629. Tritanopia.

PharmGKB

PA31938.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG06060.

HOGENOM

HBG716226.

HOVERGEN

HBG107442.

InParanoid

P03999.

OMA

YAALAMY.

OrthoDB

EOG4HQDK2.

PhylomeDB

P03999.

Enzyme and pathway databases

Reactome

REACT_111102. Signal Transduction.

Gene expression databases

ArrayExpress

P03999.

Bgee

P03999.

CleanEx

HS_OPN1SW.

Genevestigator

P03999.

GermOnline

ENSG00000128617. Homo sapiens.

Family and domain databases

InterPro

IPR000276. 7TM_GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_supfam.
IPR001760. Opsin.
IPR001521. Opsin_blue.
[Graphical view]

KO

K04252.

Pfam

PF00001. 7tm_1. 1 hit.
[Graphical view]

PRINTS

PR00237. GPCRRHODOPSN.
PR00238. OPSIN.
PR00574. OPSINBLUE.

PROSITE

PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
PS00238. OPSIN. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

2481.

SOURCE

Search...

Entry information

Entry name

OPSB_HUMAN

Accession

Primary (citable) accession number: P03999
Secondary accession number(s): Q13877

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 1986
Last sequence update:	October 23, 1986
Last modified:	January 25, 2012
This is version 125 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.