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OPN1LW R247* [photoreceptor disc membrane]
Stable Identifier
R-HSA-2471668
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
photoreceptor disc membrane
Synonyms
Red-sensitive opsin, OPSR_HUMAN, OPN1LW Arg247Ter
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of signal transduction (Homo sapiens)
Diseases associated with visual transduction (Homo sapiens)
Retinoid cycle disease events (Homo sapiens)
Defective OPN1LW causes BCM (Homo sapiens)
OPN1LW mutants [photoreceptor disc membrane] (Homo sapiens)
OPN1LW R247* [photoreceptor disc membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P04000 OPN1LW
Gene Names
OPN1LW, RCP
Chain
chain:1-364
Reference Genes
COSMIC (genes):OPN1LW OPN1LW
ENSEMBL:ENSG00000102076 OPN1LW
ENSEMBL_homo_sapiens_GENE:ENSG00000102076 OPN1LW
HGNC:9936 OPN1LW
OMIM:300822 OPN1LW
UCSC:P04000 OPN1LW
Other Identifiers
0003130075
11735456_s_at
17108234
17108244
17108254
221327_3p_s_at
221327_s_at
3996146
3996147
3996148
3996149
3996151
3996152
3996157
3996158
3996174
3996175
3996177
3996178
3996179
3996180
3996184
3996185
3996202
3996203
3996205
3996208
3996209
3996215
3996216
5956
8170811
8170816
8170825
A_23_P96623
CCDS14742
ENSG00000102076
ENSP00000358967
ENST00000369951
EntrezGene:5956
g4503964_3p_s_at
GE567795
GO:0001523
GO:0001750
GO:0003674
GO:0004930
GO:0005575
GO:0005623
GO:0005886
GO:0005887
GO:0005929
GO:0006464
GO:0006629
GO:0007049
GO:0007165
GO:0007186
GO:0007601
GO:0007602
GO:0008020
GO:0008150
GO:0009584
GO:0009881
GO:0016020
GO:0016021
GO:0018298
GO:0032467
GO:0043226
GO:0050877
GO:0050896
GO:0051301
GO:0071482
GO:0097381
H0Y622
HGNC:9936
ILMN_1677153
IPR000276
IPR000378
IPR001760
IPR017452
IPR027430
K03494_s_at
MIM:300822
MIM:303700
MIM:303900
NM_020061
NP_064445
OPN1LW
OPN1LW-201
PF00001
PH_hs_0034119
PR00237
PR00238
PR00575
TC0X000764.hg
TC0X000765.hg
TC0X000766.hg
TC0X001932.hg
TC0X001934.hg
uc033fax.1
UPI0002AB8036
Participant Of
hasMember
OPN1LW mutants [photoreceptor disc membrane]
Other forms of this molecule
OPN1LW G338E [photoreceptor disc membrane]
OPN1LW P307L [photoreceptor disc membrane]
OPN1LW C203R [photoreceptor disc membrane]
11cRAL-OPN1LW [photoreceptor disc membrane]
OPN1LW [photoreceptor disc membrane]
at-retinyl-OPN1LW [photoreceptor disc membrane]
Modified Residues
Name
L-arginine 247 replaced with unknown
Coordinate
247
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name
Identifier
Synonyms
blue cone monochromacy
0050679
blue cone monochromatism
Cross References
OpenTargets
ENSG00000102076
GeneCards
P04000
PRO
P04000
Orphanet
16592
PDB
1KPX
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q8IXM6 NRM
0.488
2
UniProt:A5PKU2 A5PKU2
0.488
2
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