Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5956
Gene name Gene Name - the full gene name approved by the HGNC.	Opsin 1, long wave sensitive
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	OPN1LW
Synonyms (NCBI Gene) Gene synonyms aliases	CBBM, CBP, COD5, RCP, ROP
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq28
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal

Show/Hide all(7)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018519	hsa-miR-335-5p	Microarray	18185580
MIRT1204396	hsa-miR-4434	CLIP-seq
MIRT1204397	hsa-miR-4516	CLIP-seq
MIRT1204398	hsa-miR-4531	CLIP-seq
MIRT1204399	hsa-miR-4534	CLIP-seq
MIRT1204400	hsa-miR-4729	CLIP-seq
MIRT1204401	hsa-miR-5095	CLIP-seq

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IBA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS	9860863
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	2937147
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	7643192
GO:0007602	Process	Phototransduction	IBA
GO:0007602	Process	Phototransduction	IEA
GO:0008020	Function	G protein-coupled photoreceptor activity	IBA
GO:0009584	Process	Detection of visible light	IEA
GO:0009881	Function	Photoreceptor activity	IEA
GO:0009881	Function	Photoreceptor activity	IMP	8185948
GO:0009881	Function	Photoreceptor activity	TAS	9860863
GO:0016020	Component	Membrane	IEA
GO:0016038	Process	Absorption of visible light	IBA
GO:0032467	Process	Positive regulation of cytokinesis	IEA
GO:0032467	Process	Positive regulation of cytokinesis	IMP	22888021
GO:0071482	Process	Cellular response to light stimulus	IBA
GO:0097381	Component	Photoreceptor disc membrane	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS

MIM	HGNC	e!Ensembl
300822	9936	ENSG00000102076

Protein

UniProt ID

P04000

Protein name

Long-wave-sensitive opsin 1 (Red cone photoreceptor pigment) (Red-sensitive opsin) (ROP)

Protein function

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

PDB

8IU2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	70 → 322	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

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

Sequence

MAQQWSLQRLAGRHPQDSYEDSTQSSIFTYTNSNSTRGPFEGPNYHIAPRWVYHLTSVWM
IFVVTASVFTNGLVLAATMKFKKLRHPLNWILVNLAVADLAETVIASTISIVNQVSGYFV
LGHPMCVLEGYTVSLCGITGLWSLAIISWERWLVVCKPFGNVRFDAKLAIVGIAFSWIWS
AVWTAPPIFGWSRYWPHGLKTSCGPDVFSGSSYPGVQSYMIVLMVTCCIIPLAIIMLCYL
QVWLAIRAVAKQQKESESTQKAEKEVTRMVVVMIFAYCVCWGPYTFFACFAAANPGYAFH
PLMAALPAYFAKSATIYNPVIYVFMNRQFRNCILQLFGKKVDDGSELSSASKTEVSSVSS
VSPA

Sequence length

364

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cone monochromatism	cone monochromatism	rs104894912, rs121434621	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Blue Cone Monochromacy	blue cone monochromacy	N/A	N/A	GenCC
Color Blindness	red color blindness	N/A	N/A	GenCC
Cone Dystrophy	cone-rod dystrophy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Achromatopsia 2	Associate	37097228
Blue cone monochromatism	Associate	25909963, 26153062, 27339364, 29940872, 30065301, 33344057, 34445325, 35743313, 36692456
Bornholm Eye Disease	Associate	30996587, 34287097, 35743313
Cardiac Output Low	Inhibit	35759666
Color Vision Defects	Associate	25168334, 35743313
Cone Rod Dystrophy X Linked 2	Associate	27339364, 35743313
Congenital Abnormalities	Associate	25168334
Eye Diseases	Associate	37365340
Myopia	Associate	25168334, 30996587, 35400991, 35741704, 35743313, 37097228, 37749571, 38243264
Nystagmus Pathologic	Associate	25168334
O'Donnell Pappas syndrome	Associate	34445325
Pigmentation Disorders	Associate	30065301
Progressive hearing loss stapes fixation	Associate	37749571
Retinal Cone Dystrophy 1	Associate	35743313
Retinal Degeneration	Associate	25168334
Retinitis	Associate	23139274
Retinoblastoma	Associate	35743313
Vision Disorders	Associate	23139274, 25168334

OPN1LW (opsin 1, long wave sensitive)