RDH11
entrez
51109
canonical
uniprot
Q8TC12
canonical
ensembl
ENSG00000072042
resolver
ensp
ENSP00000370750
resolver
ensp
ENSP00000416395
resolver
genesymbol
RDH11
resolver
genesymbol_syn
ARSDR1
resolver
genesymbol_syn
PSDR1
resolver
genesymbol_syn
SDR7C1
resolver
hgnc
HGNC:17964
resolver
uniprot
A0A0S2Z583
resolver
uniprot
A6NDK3
resolver
uniprot
A8K062
resolver
uniprot
B2RB26
resolver
uniprot
B4DDW0
resolver
uniprot
Q0QD40
resolver
uniprot
Q6IAH5
resolver
uniprot
Q9NRW0
resolver
uniprot
Q9Y391
resolver
uniprot_entry
A0A0S2Z583_HUMAN
resolver
uniprot_entry
RDH11_HUMAN
resolver
uniprot_sec
A6NDK3
resolver
uniprot_sec
A8K062
resolver
uniprot_sec
B2RB26
resolver
uniprot_sec
B4DDW0
resolver
uniprot_sec
Q0QD40
resolver
uniprot_sec
Q6IAH5
resolver
uniprot_sec
Q9NRW0
resolver
uniprot_sec
Q9Y391
resolver
activity_regulation
ACTIVITY REGULATION: SELENOF decreases the retinol dehydrogenase activity. {ECO:0000269|PubMed:29410696}.
uniprot
proteins
amino_acid_sequence
MVELMFPLLLLLLPFLLYMAAPQIRKMLSSGVCTSTVQLPGKVVVVTGANTGIGKETAKELAQRGARVYLACRDVEKGELVAKEIQTTTGNQQVLVRKLDLSDTKSIRAFAKGFLAEEKHLHVLINNAGVMMCPYSKTADGFEMHIGVNHLGHFLLTHLLLEKLKESAPSRIVNVSSLAHHLGRIHFHNLQGEKFYNAGLAYCHSKLANILFTQELARRLKGSGVTTYSVHPGTVQSELVRHSSFMRWMWWLFSFFIKTPQQGAQTSLHCALTEGLEILSGNHFSDCHVAWVSAQARNETIARRLWDVSCDLLGLPID
uniprot
proteins
disease_involvement
DISEASE: Retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS) [MIM:616108]: A disorder characterized by retinal dystrophy resulting in progressive decrease in visual acuity and difficulties with night vision in the first decade of life, development of juvenile cataracts, facial dysmorphism, psychomotor developmental delays, learning disabilities and short stature. Ophthalmological findings include salt-and-pepper retinopathy, attenuation of the arterioles, generalized rod-cone dysfunction, mottled macula at an early age, and peripapillary sparing of the retinal pigment epithelium. {ECO:0000269|PubMed:24916380}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.300
uniprot
proteins
function
FUNCTION: Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol, and to a lesser extent on 13-cis-retinol (PubMed:12036956, PubMed:12226107, PubMed:29410696). Exhibits a low reductive activity towards unsaturated medium-chain aldehydes such as cis -6-nonenal and no activity toward nonanal or 4-hydroxy-nonenal (PubMed:15865448). Has no dehydrogenase activity towards steroid (PubMed:12036956, PubMed:12226107). {ECO:0000269|PubMed:12036956, ECO:0000269|PubMed:12226107, ECO:0000269|PubMed:15865448, ECO:0000269|PubMed:29410696}.
uniprot
proteins
mass_dalton
35386
uniprot
proteins
pathway_participation
PATHWAY: Cofactor metabolism; retinol metabolism. {ECO:0000269|PubMed:12036956, ECO:0000269|PubMed:12226107}.
uniprot
proteins
post_translational_modification
PTM: Not glycosylated. {ECO:0000269|PubMed:11245473}.
uniprot
proteins
protein_family
Short-chain dehydrogenases/reductases (SDR) family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11245473
uniprot
proteins
pubmed
12036956
uniprot
proteins
pubmed
12226107
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15865448
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
17286855
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24916380
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29410696
uniprot
proteins
sequence_length
318
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12036956}; Single-pass type II membrane protein {ECO:0000269|PubMed:12036956}.
uniprot
proteins
transmembrane_region
TRANSMEM 1..21; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000269|PubMed:12036956, ECO:0000269|PubMed:12226107
uniprot
proteins