RDH5
entrez
5959
canonical
uniprot
Q92781
canonical
ensembl
ENSG00000135437
resolver
ensp
ENSP00000257895
resolver
ensp
ENSP00000447128
resolver
ensp
ENSP00000536918
resolver
ensp
ENSP00000536921
resolver
enst
ENST00000257895
resolver
enst
ENST00000548082
resolver
enst
ENST00000866859
resolver
enst
ENST00000866862
resolver
genesymbol
RDH5
resolver
genesymbol_syn
HSD17B9
resolver
genesymbol_syn
RDH1
resolver
genesymbol_syn
SDR9C5
resolver
hgnc
HGNC:9940
resolver
uniprot
O00179
resolver
uniprot
Q8TAI2
resolver
uniprot_entry
RDH5_HUMAN
resolver
uniprot_sec
O00179
resolver
uniprot_sec
Q8TAI2
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by 9-cis-, 13-cis- and all-trans-retinoic acids, with the most potent inhibitor being 13-cis-retinoic acid. Weakly inhibited by oleic acid. {ECO:0000269|PubMed:10588954}.
uniprot
proteins
amino_acid_sequence
MWLPLLLGALLWAVLWLLRDRQSLPASNAFVFITGCDSGFGRLLALQLDQRGFRVLASCLTPSGAEDLQRVASSRLHTTLLDITDPQSVQQAAKWVEMHVKEAGLFGLVNNAGVAGIIGPTPWLTRDDFQRVLNVNTMGPIGVTLALLPLLQQARGRVINITSVLGRLAANGGGYCVSKFGLEAFSDSLRRDVAHFGIRVSIVEPGFFRTPVTNLESLEKTLQACWARLPPATQAHYGGAFLTKYLKMQQRIMNLICDPDLTKVSRCLEHALTARHPRTRYSPGWDAKLLWLPASYLPASLVDAVLTWVLPKPAQAVY
uniprot
proteins
disease_involvement
DISEASE: Fundus albipunctatus (FALBI) [MIM:136880]: A form of fleck retina disease characterized by discrete uniform white dots over the entire fundus with greatest density in the mid-periphery and no macular involvement. Night blindness occurs. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:10369264, ECO:0000269|PubMed:10617778, ECO:0000269|PubMed:11053295, ECO:0000269|PubMed:11053296, ECO:0000269|PubMed:11078852, ECO:0000269|PubMed:11470705, ECO:0000269|PubMed:11675386, ECO:0000269|PubMed:12788147, ECO:0000269|PubMed:12967826, ECO:0000269|PubMed:22736946, ECO:0000269|PubMed:24603341, ECO:0000269|PubMed:25820994, ECO:0000269|PubMed:28418496}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.209
uniprot
proteins
ec_number
1.1.1.315
uniprot
proteins
ec_number
1.1.1.53
uniprot
proteins
function
FUNCTION: Catalyzes the oxidation of cis-isomers of retinol, including 11-cis-, 9-cis-, and 13-cis-retinol in an NAD-dependent manner (PubMed:10588954, PubMed:11675386, PubMed:9115228, PubMed:9931293). Has no activity towards all-trans retinal (By similarity). Plays a significant role in 11-cis retinol oxidation in the retinal pigment epithelium cells (RPE). Also recognizes steroids (androsterone, androstanediol) as its substrates (PubMed:29541409, PubMed:9931293). {ECO:0000250|UniProtKB:Q27979, ECO:0000269|PubMed:10588954, ECO:0000269|PubMed:11675386, ECO:0000269|PubMed:29541409, ECO:0000269|PubMed:9115228, ECO:0000269|PubMed:9931293}.
uniprot
proteins
mass_dalton
34979
uniprot
proteins
mutagenesis
MUTAGEN 175..179; /note="YCVSK->FCVSR: Decreases androsterone dehydrogenase activity."; /evidence="ECO:0000269|PubMed:29541409
uniprot
proteins
pathway_participation
PATHWAY: Cofactor metabolism; retinol metabolism. {ECO:0000269|PubMed:9115228}.
uniprot
proteins
protein_family
Short-chain dehydrogenases/reductases (SDR) family
uniprot
proteins
pubmed
10369264
uniprot
proteins
pubmed
10588954
uniprot
proteins
pubmed
10617778
uniprot
proteins
pubmed
11053295
uniprot
proteins
pubmed
11053296
uniprot
proteins
pubmed
11078852
uniprot
proteins
pubmed
11470705
uniprot
proteins
pubmed
11675386
uniprot
proteins
pubmed
12788147
uniprot
proteins
pubmed
12967826
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19027726
uniprot
proteins
pubmed
22736946
uniprot
proteins
pubmed
24603341
uniprot
proteins
pubmed
25820994
uniprot
proteins
pubmed
28418496
uniprot
proteins
pubmed
29541409
uniprot
proteins
pubmed
8884265
uniprot
proteins
pubmed
9115228
uniprot
proteins
pubmed
9931293
uniprot
proteins
sequence_length
318
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11675386}; Multi-pass membrane protein {ECO:0000255}; Lumenal side {ECO:0000269|PubMed:11675386}.
uniprot
proteins
transmembrane_region
TRANSMEM 1..21; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 289..309; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins