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
Icon
OPN1LW R247* [photoreceptor disc membrane] icon
OPN1LW R247* [photoreceptor disc membrane] icon
Locations in the PathwayBrowser
Expand all
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
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
3996145
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
GE567795
GO:0001523
GO:0001750
GO:0003674
GO:0004930
GO:0005515
GO:0005575
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
HMNXSV003040100
ILMN_1677153
ILMN_3241647
K03494_s_at
PH_hs_0034119
TC0X000764.hg
TC0X000765.hg
TC0X000766.hg
TC0X001932.hg
TC0X001934.hg
Z68193_at
g4503964_3p_s_at
Participates
as a member of
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]
at-retinyl-OPN1LW [photoreceptor disc membrane]
OPN1LW [photoreceptor disc membrane]
Modified Residues
Name
Nonsense mutation at L-arginine 247
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 DOID:0050679 blue cone monochromatism
Cross References
Guide to Pharmacology - Targets
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
GlyGen
Orphanet
Interactors (2)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q8IXM6 NRM      0.556 3
 UniProt:A5PKU2 A5PKU2      0.556 3
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