RDH11 (retinol dehydrogenase 11)

2003-02-01  

Identity

HGNC
RDH11
LOCATION
14q24.1
LOCUSID
51109
ALIAS
ARSDR1,CGI82,HCBP12,MDT1,PSDR1,RALR1,RDJCSS,SCALD,SDR7C1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51109
MIM: 607849
HGNC: 17964
Ensembl: ENSG00000072042

Variants:

dbSNP: 51109
ClinVar: 51109
TCGA: ENSG00000072042
COSMIC: RDH11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000072042ENST00000381346Q8TC12
ENSG00000072042ENST00000381346A0A0S2Z583
ENSG00000072042ENST00000428130Q8TC12
ENSG00000072042ENST00000553384Q8TC12
ENSG00000072042ENST00000554035H0YJ46
ENSG00000072042ENST00000554731G3V3K0
ENSG00000072042ENST00000557273G3V2G6
ENSG00000072042ENST00000557331G3V510
ENSG00000072042ENST00000557726G3V234

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Retinol metabolismKEGGko00830
Retinol metabolismKEGGhsa00830
Metabolic pathwaysKEGGhsa01100
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902
Signaling by Retinoic AcidREACTOMER-HSA-5362517
RA biosynthesis pathwayREACTOMER-HSA-5365859
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
146747582003Properties of short-chain dehydrogenase/reductase RalR1: characterization of purified enzyme, its orientation in the microsomal membrane, and distribution in human tissues and cell lines.31
120369562002Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1).22
249163802014New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.13
255427822015Structure of the N-terminal segment of human retinol dehydrogenase 11 and its preferential lipid binding using model membranes.4
125324532003Interaction between hepatitis C virus core protein and translin protein--a possible molecular mechanism for hepatocellular carcinoma and lymphoma caused by hepatitis C virus.3
258291922015Ribosomal protein L11- and retinol dehydrogenase 11-induced erythroid proliferation without erythropoietin in UT-7/Epo erythroleukemic cells.2
172496162006Photoreceptor retinol dehydrogenases. An attempt to characterize the function of Rdh11.1

Citation

Dessen P

RDH11 (retinol dehydrogenase 11)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42080/rdh11