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OPN1SW S214P [photoreceptor disc membrane]
Stable Identifier
R-HSA-2470745
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
photoreceptor disc membrane
Synonyms
Blue-sensitive opsin, OPSB_HUMAN, OPN1SW Ser214Pro
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 OPN1SW causes tritanopia (Homo sapiens)
OPN1SW mutants [photoreceptor disc membrane] (Homo sapiens)
OPN1SW S214P [photoreceptor disc membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P03999 OPN1SW
Gene Names
OPN1SW, BCP
Chain
chain:1-345
Reference Genes
COSMIC (genes):OPN1SW OPN1SW
ENSEMBL:ENSG00000128617 OPN1SW
ENSEMBL_homo_sapiens_GENE:ENSG00000128617.3 OPN1SW
HGNC:1012 OPN1SW
OMIM:613522 OPN1SW
Reference Transcript
RefSeq:NM_001708.2 OPN1SW
Other Identifiers
11735469_at
17062704
208036_PM_at
208036_at
3071863
3071864
3071865
3071867
3071868
3071869
3071870
32453_at
611
8142814
A_23_P419156
GE80666
GO:0001750
GO:0001917
GO:0004930
GO:0005515
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0005886
GO:0005929
GO:0007165
GO:0007186
GO:0007601
GO:0007602
GO:0008020
GO:0009584
GO:0009881
GO:0016020
GO:0023052
GO:0038023
GO:0042995
GO:0043226
GO:0045171
GO:0048471
GO:0050877
GO:0050896
GO:0060089
GO:0071482
GO:0071492
GO:0097381
GO:0120199
HMNXSV003045155
ILMN_1757379
TC07001849.hg
g4502386_3p_at
Participates
as a member of
OPN1SW mutants [photoreceptor disc membrane] (Homo sapiens)
Other forms of this molecule
OPN1SW P264S [photoreceptor disc membrane]
OPN1SW G79R [photoreceptor disc membrane]
11cRAL-OPN1SW [photoreceptor disc membrane]
at-retinyl-OPN1SW [photoreceptor disc membrane]
OPN1SW [photoreceptor disc membrane]
Modified Residues
Name
L-serine 214 replaced with L-proline
Coordinate
214
PsiMod
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
Disease
Name
Identifier
Synonyms
blue color blindness
DOID:11661
Tritan defect, Tritanopia, Tritanopia (disorder), Tritan defect (disorder)
Cross References
RefSeq
NP_001699.1
Guide to Pharmacology - Targets
2960
OpenTargets
ENSG00000128617
HPA
ENSG00000128617-OPN1SW
GeneCards
P03999
Ensembl
ENST00000249389
,
ENSG00000128617
,
ENSP00000249389
PRO
P03999
Pharos - Targets
P03999
Orphanet
16594
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q9GZY8-5 MFF
0.556
3
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