OPN1LW (opsin 1, long wave sensitive)

Gene

• Entrez ID: 5956
• Gene name: Opsin 1, long wave sensitive
• Gene symbol: OPN1LW
• Synonyms (NCBI Gene): CBBM, CBP, COD5, RCP, ROP
• Disease Acronyms (UniProt): CBP, COD5
• Chromosome: X
• Chromosome location: Xq28
• Summary: 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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001750	Component	Photoreceptor outer segment	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007165	Process	Signal transduction	TAS	2937147
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007601	Process	Visual perception	IEA
GO:0007602	Process	Phototransduction	IBA	21873635
GO:0008020	Function	G protein-coupled photoreceptor activity	IBA	21873635
GO:0009584	Process	Detection of visible light	IEA
GO:0009881	Function	Photoreceptor activity	IMP	8185948
GO:0018298	Process	Protein-chromophore linkage	IEA
GO:0032467	Process	Positive regulation of cytokinesis	IMP	22888021
GO:0071482	Process	Cellular response to light stimulus	IBA	21873635
GO:0097381	Component	Photoreceptor disc membrane	TAS

Other IDs

• MIM: 300822
• HGNC: 9936
• e!Ensembl: 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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cone monochromatism	Cone monochromatism	rs104894912, rs121434621, rs104894914	15069569, 8666378, 8792812, 8213841
Cone-rod dystrophy	Cone-Rod Dystrophy 2, Cone rod dystrophy	rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209, rs104894672, rs61748436, rs2123743692, rs61751408, rs61751374, rs61750200, rs62642560, rs61752410, rs121909206, rs387906388, rs61753033, rs61750172, rs61750173, rs267606857, rs606231180, rs606231181, rs137852551, rs863223294, rs61755792, rs61755786, rs62625014, rs781781440, rs137853932, rs1064792853, rs387907136, rs397517974, rs397517994, rs786200944, rs398123044, rs398122960, rs61752435, rs1800728, rs398124354, rs61749679, rs61750184, rs61755781, rs281865373, rs62653029, rs62635009, rs281865297, rs61748558, rs61749409, rs61750202, rs61750065, rs61751398, rs61750146, rs281865377, rs61751388, rs62646861, rs61750158, rs61751403, rs62646872, rs61750575, rs61751407, rs61750645, rs281865516, rs61751266, rs137853907, rs483353055, rs587777469, rs587777470, rs587777471, rs199882533, rs76216585, rs587777693, rs587777694, rs786205151, rs150115958, rs2723341, rs201422368, rs786205664, rs746559651, rs786205665, rs786205661, rs794727197, rs192003551, rs886041039, rs863224913, rs771214648, rs863225090, rs751163782, rs875989778, rs886044750, rs768278935, rs886044735, rs201471607, rs61752398, rs878853400, rs886037880, rs886037881, rs886039559, rs748706582, rs886039882, rs886041900, rs886042153, rs749526785, rs1057516195, rs1057516199, rs543698823, rs199840367, rs752175052, rs1085307121, rs104893793, rs1064797182, rs1131691378, rs778234759, rs1553193813, rs373331232, rs756678484, rs780667159, rs1557110499, rs1553901823, rs201587670, rs1439202144, rs1555635778, rs1429786931, rs1553187160, rs1553188916, rs1555345387, rs61749412, rs951379922, rs1554186472, rs767528365, rs1210104601, rs776289402, rs750740765, rs544616523, rs75459701, rs759940113, rs1557787559, rs782581701, rs771116776, rs1006935198, rs755733328, rs1560141393, rs121918567, rs752263228, rs775957498, rs1030149008, rs530749007, rs141823837, rs1570393848, rs1571250020, rs1570382663, rs78484040, rs766357803, rs1437021651, rs1601982595, rs1597331616, rs748798324, rs759408031, rs747512450, rs373680665, rs1355802816, rs374017889, rs1589307705, rs376500610, rs1598146173, rs1598149154, rs752619497, rs1571257937, rs1572829866, rs1426009756, rs1464167194, rs1588391640, rs1588865728, rs1589306127, rs1420750126, rs1598150539, rs1598150793, rs1601972449, rs782740998, rs767366723, rs1602653110, rs778456901, rs1662213462, rs1662507319, rs751644763, rs1689012192, rs1667508280, rs1719285721, rs1734066547, rs1800111659, rs1827340429, rs1196886096, rs1882924778, rs2046020472, rs2046113301, rs1594280740, rs1590681805, rs1570373408, rs369973540, rs1005271380, rs368213921, rs535922252, rs745741473, rs138370992, rs772656461, rs749738655, rs1968173024, rs746128841, rs1887576038, rs909373397, rs750116711, rs1659840790, rs1768016995, rs1186795749	20579627
Corneal dystrophy	Corneal dystrophy	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease term	Disease name	Evidence	References	Source
Blue Cone Monochromacy	blue cone monochromacy			GenCC
Cone Dystrophy	cone-rod dystrophy			GenCC
Color Blindness	red color blindness			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
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