Reactome | OPN1SW G79R [photoreceptor disc membrane]

OPN1SW G79R [photoreceptor disc membrane]

Stable Identifier

R-HSA-2470743

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

photoreceptor disc membrane

Synonyms

Blue-sensitive opsin, OPSB_HUMAN, OPN1SW Gly79Arg

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Locations in the PathwayBrowser

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External Reference Information

External Reference

UniProt:P03999 OPN1SW

Gene Names

OPN1SW, BCP

Chain

chain:1-348

Reference Genes

BioGPS Gene:611 OPN1SW

COSMIC (genes):OPN1SW OPN1SW

CTD Gene:611 OPN1SW

dbSNP Gene:611 OPN1SW

ENSEMBL:ENSG00000128617 OPN1SW

HGNC:1012 OPN1SW

Monarch:611 OPN1SW

NCBI Gene:611 OPN1SW

OMIM:613522 OPN1SW

Reference Transcript

RefSeq:NM_001708.2 OPN1SW

Other Identifiers

0000730670

11735469_at

17062704

208036_at

3071863

3071864

3071865

3071867

3071868

3071869

3071870

32453_at

611

8142814

A_23_P419156

GE80666

GO:0001523

GO:0001750

GO:0001917

GO:0003674

GO:0004930

GO:0005515

GO:0005575

GO:0005622

GO:0005737

GO:0005886

GO:0005887

GO:0005929

GO:0006464

GO:0006629

GO:0007165

GO:0007186

GO:0007601

GO:0007602

GO:0008020

GO:0008150

GO:0009584

GO:0009881

GO:0016020

GO:0016021

GO:0018298

GO:0038023

GO:0042995

GO:0043226

GO:0048471

GO:0050877

GO:0050896

GO:0071482

GO:0071492

GO:0097381

HMNXSV003045155

ILMN_1757379

TC07001849.hg

g4502386_3p_at

Participates

as a member of

OPN1SW mutants [photoreceptor disc membrane] (Homo sapiens)

Other forms of this molecule

OPN1SW S214P [photoreceptor disc membrane]

OPN1SW P264S [photoreceptor disc membrane]

11cRAL-OPN1SW [photoreceptor disc membrane]

at-retinyl-OPN1SW [photoreceptor disc membrane]

OPN1SW [photoreceptor disc membrane]

Modified Residues

Name

glycine 79 replaced with L-arginine

Coordinate

PsiMod

L-arginine residue [MOD:00011]

A protein modification that effectively converts a source amino acid residue to an L-arginine.

glycine removal [MOD:01638]

A protein modification that effectively removes or replaces an glycine.

Disease

Name	Identifier	Synonyms
blue color blindness	DOID:11661	Tritan defect, Tritanopia, Tritanopia (disorder), Tritan defect (disorder)

Cross References

RefSeq

NP_001699.1

Guide to Pharmacology - Targets

2960

OpenTargets

ENSG00000128617

GeneCards

P03999

HPA

ENSG00000128617-OPN1SW

Ensembl

ENST00000249389, ENSP00000249389, ENSG00000128617

PRO

P03999

Pharos - Targets

P03999

Orphanet

16594

GlyGen

P03999

PDB

1KPN

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q9GZY8-5 MFF			0.556	3