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RDH5 G238W [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-2471938
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
11-cis retinol dehydrogenase 5, RDH5 Gly238Trp
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 RDH5 does not oxidise 11cROL to 11cRAL and causes RPA (Homo sapiens)
RDH5 mutants [endoplasmic reticulum membrane] (Homo sapiens)
RDH5 G238W [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q92781 RDH5
Gene Names
RDH5, HSD17B9, RDH1, SDR9C5
Chain
chain:1-318
Reference Genes
BioGPS Gene:5959 RDH5
COSMIC (genes):RDH5 RDH5
CTD Gene:5959 RDH5
dbSNP Gene:5959 RDH5
ENSEMBL:ENSG00000135437 RDH5
ENSEMBL_homo_sapiens_GENE:ENSG00000135437.10 RDH5
HGNC:9940 RDH5
KEGG Gene (Homo sapiens):5959 RDH5
Monarch:5959 RDH5
NCBI Gene:5959 RDH5
OMIM:601617 RDH5
UCSC:Q92781 RDH5
Reference Transcript
RefSeq:NM_001199771.1 RDH5
RefSeq:NM_002905.3 RDH5
Other Identifiers
11724965_at
11724966_s_at
210106_PM_at
210106_at
32727_at
3416922
3416924
3416925
3416926
3416927
3416930
3416932
3416934
3416935
3416936
5959
7956018
GE54293
GO:0001523
GO:0003824
GO:0004745
GO:0005783
GO:0005788
GO:0005789
GO:0006629
GO:0007601
GO:0008202
GO:0016020
GO:0016491
GO:0042572
GO:0042803
GO:0043226
GO:0043231
GO:0044297
GO:0047023
GO:0047044
GO:0050877
GO:0050896
GO:0106429
HMNXSV003023337
ILMN_1773395
TC12003300.hg
U89717_at
g1616653_3p_at
p33670
Participates
as a member of
RDH5 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
RDH5 V177G [endoplasmic reticulum membrane]
RDH5 A294P [endoplasmic reticulum membrane]
RDH5 R157W [endoplasmic reticulum membrane]
RDH5 R280H [endoplasmic reticulum membrane]
RDH5 [endoplasmic reticulum membrane]
Modified Residues
Name
glycine 238 replaced with L-tryptophan
Coordinate
238
PsiMod
L-tryptophan residue [MOD:00027]
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
Disease
Name
Identifier
Synonyms
fundus albipunctatus
DOID:11105
Pigmentary retinal dystrophy, Pigmentary retinal dystrophy (disorder)
Cross References
RefSeq
NP_002896.2
,
NP_001186700.1
OpenTargets
ENSG00000135437
HPA
ENSG00000135437-RDH5
GeneCards
Q92781
Ensembl
ENST00000257895
,
ENST00000548082
,
ENSG00000135437
,
ENSP00000447128
,
ENSP00000257895
PRO
Q92781
Pharos - Targets
Q92781
Orphanet
15195
HMDB Protein
HMDBP00495
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:O43929 ORC4
1
ORC4 [nucleoplasm]
(R-HSA-68519)
0.488
2
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