RDH5 R157W

Stable Identifier
R-HSA-2471923
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
11-cis retinol dehydrogenase 5, RDH5 Arg157Trp
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q92781 RDH5
Gene Names
RDH5, HSD17B9, RDH1, SDR9C5
Chain
signal peptide:1-23, chain:24-318
Reference Genes
BioGPS Gene:5959 RDH5
COSMIC (genes):RDH5 RDH5
CTD Gene:5959 RDH5
dbSNP Gene:5959 RDH5
ENSEMBL:ENSG00000135437 RDH5
ENSEMBL:ENSG00000135437 RDH5
HGNC:9940 RDH5
KEGG Gene (Homo sapiens):hsa:5959 RDH5
Monarch:5959 RDH5
NCBI Gene:5959 RDH5
OMIM:601617 RDH5
UCSC:Q92781 RDH5
Reference Transcript
Other Identifiers
0002850541
11724965_at
11724966_s_at
210106_at
32727_at
3416922
3416924
3416925
3416926
3416927
3416930
3416932
3416934
3416935
3416936
5959
63345
7956018
A0A024RB18
AAB93668
AAC09250
AAC50725
AAH28298
AF037062
BC028298
CCDS31829
CH471054
EAW96825
EAW96826
ENSG00000135437
ENSP00000257895
ENSP00000447128
ENST00000257895
ENST00000548082
EntrezGene:5959
g1616653_3p_at
GE54293
GO:0001523
GO:0003674
GO:0004745
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005783
GO:0005788
GO:0005789
GO:0006629
GO:0007601
GO:0008150
GO:0016020
GO:0016491
GO:0042572
GO:0043226
GO:0044281
GO:0044297
GO:0050877
GO:0050896
GO:0055114
HGNC:9940
HPA063345
ILMN_1773395
IPR002347
IPR036291
MIM:136880
MIM:601617
NM_001199771
NM_002905
NP_001186700
NP_002896
PF00106
PR00080
PR00081
RDH5
RDH5-201
RDH5-204
U43559
U89717
U89717_at
uc001shk.4
uc001shl.4
UPI0000034C0B
Participant Of
hasMember
Other forms of this molecule
RDH5 V177G [endoplasmic reticulum membrane]
RDH5 A294P [endoplasmic reticulum membrane]
RDH5 G238W [endoplasmic reticulum membrane]
RDH5 R280H [endoplasmic reticulum membrane]
RDH5(24-318) [endoplasmic reticulum membrane]
Modified Residues
Name
L-arginine 157 replaced with L-tryptophan
Coordinate
157
PsiMod HEY
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-tryptophan residue [MOD:00027]
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
Disease
Name Identifier Synonyms
fundus albipunctatus 11105 Pigmentary retinal dystrophy, Pigmentary retinal dystrophy (disorder)
Cross References
RefSeq
GeneCards
PRO
BRENDA (Homo sapiens)
Orphanet
HMDB Protein
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:O43929 ORC4  1 0.488 2