RDH5 R280H [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-2471937
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
11-cis retinol dehydrogenase 5, RDH5 Arg280His
Icon
RDH5 R280H [endoplasmic reticulum membrane] icon
RDH5 R280H [endoplasmic reticulum membrane] icon
Locations in the PathwayBrowser
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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
HGNC:9940 RDH5
KEGG:hsa:5959 RDH5
Monarch:5959 RDH5
NCBI Gene:5959 RDH5
OMIM:601617 RDH5
UCSC:Q92781 RDH5
Reference Transcript
Other Identifiers
11724965_at
11724966_s_at
11762774_at
210106_PM_at
210106_at
236291_PM_at
236291_at
32727_at
3416922
3416923
3416924
3416925
3416926
3416927
3416928
3416929
3416930
3416931
3416932
3416934
3416935
3416936
5959
7956018
87407_at
A_14_P107578
A_14_P121101
A_24_P218814
A_32_P80198
GE54293
GO:0001523
GO:0003824
GO:0004745
GO:0005783
GO:0005788
GO:0005789
GO:0006629
GO:0007601
GO:0008202
GO:0016020
GO:0016491
GO:0016616
GO:0042572
GO:0042803
GO:0043226
GO:0043231
GO:0044297
GO:0047023
GO:0047044
GO:0050877
GO:0106429
HMNXSV003023337
Hs.222853.0.S1_3p_at
ILMN_1773395
TC12003300.hg
U89717_at
g1616653_3p_at
p33670
Participates
as a member of
Other forms of this molecule
RDH5 V177G [endoplasmic reticulum membrane]
RDH5 A294P [endoplasmic reticulum membrane]
RDH5 G238W [endoplasmic reticulum membrane]
RDH5 R157W [endoplasmic reticulum membrane]
RDH5 [endoplasmic reticulum membrane]
Modified Residues
Name
L-arginine 280 replaced with L-histidine
Coordinate
280
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-histidine residue [MOD:00018]
A protein modification that effectively converts a source amino acid residue to an L-histidine.
Disease
Name Identifier Synonyms
fundus albipunctatus DOID:11105 Pigmentary retinal dystrophy, Pigmentary retinal dystrophy (disorder)
Cross References
ENSEMBL
OpenTargets
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
HMDB Protein
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:O43929 ORC4  1 0.488 2
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