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OPN1LW P307L [photoreceptor disc membrane]
Stable Identifier
R-HSA-2471740
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
photoreceptor disc membrane
Synonyms
Red-sensitive opsin, OPSR_HUMAN, OPN1LW Pro307Leu
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of the neuronal system (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 P307L [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
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
OPN1LW mutants [photoreceptor disc membrane] (Homo sapiens)
Other forms of this molecule
OPN1LW G338E [photoreceptor disc membrane]
OPN1LW C203R [photoreceptor disc membrane]
OPN1LW R247* [photoreceptor disc membrane]
11cRAL-OPN1LW [photoreceptor disc membrane]
at-retinyl-OPN1LW [photoreceptor disc membrane]
OPN1LW [photoreceptor disc membrane]
Modified Residues
Name
L-proline 307 replaced with L-leucine
Coordinate
307
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-proline removal [MOD:01645]
A protein modification that effectively removes or replaces an L-proline.
Disease
Name
Identifier
Synonyms
blue cone monochromacy
DOID:0050679
blue cone monochromatism
Cross References
Guide to Pharmacology - Targets
2961
OpenTargets
ENSG00000102076
GeneCards
P04000
HPA
ENSG00000102076-OPN1LW
Ensembl
ENST00000369951
,
ENSP00000358967
,
ENSG00000102076
PRO
P04000
Pharos - Targets
P04000
GlyGen
P04000
Orphanet
16592
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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