DHRS3: Dehydrogenase/Reductase 3
A short-chain dehydrogenase/reductase involved in retinoic acid synthesis and cellular differentiation.
Gene Information Card
| Symbol | DHRS3 |
|---|---|
| Full Name | Dehydrogenase/Reductase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 9249 ncbi.nlm.nih.gov/gene/9249 |
| Ensembl ID | ENSG00000162493 |
| UniProt ID | Q9NYL2 |
| OMIM ID | 612830 |
| HGNC ID | 2869 |
| Aliases | SDR16C1, retSDR1, RDH17, RSDR1 |
Description
DHRS3 (dehydrogenase/reductase 3) encodes a member of the short-chain dehydrogenase/reductase (SDR) family. The protein functions as a retinol dehydrogenase, catalyzing the conversion of all-trans-retinal to all-trans-retinol, a key step in the visual cycle and retinoic acid biosynthesis. It is also involved in the metabolism of steroids and other lipids. DHRS3 is widely expressed and plays a role in embryonic development, cell differentiation, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal dystrophy | Impaired retinol metabolism due to DHRS3 deficiency leads to accumulation of toxic retinaldehyde and disrupted visual cycle. | ClinVar, OMIM |
| Cancer (various) | Altered DHRS3 expression affects retinoic acid signaling, promoting cell proliferation and tumorigenesis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Testis | 6.1 | Low |
| Retina | 15.2 | High |
| Lung | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | High expression |
| HepG2 | 8.9 | Moderate expression |
| ARPE-19 | 14.3 | High expression (retinal pigment epithelium) |
| MCF7 | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Impaired catalytic activity |
| c.458G>A (p.Arg153Gln) | Missense | <0.01% | Reduced retinol dehydrogenase activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish or severely reduce enzymatic activity (e.g., start codon loss, catalytic site mutations) are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DHRS3.
Dominant Negative (DN)
No dominant-negative mutations have been described for DHRS3.
View complete mutation data：
Gene Ontology (GO)
| • retinol dehydrogenase activity (GO:0004745) | • oxidation-reduction process (GO:0055114) |
| • endoplasmic reticulum (GO:0005783) | • cytosol (GO:0005829) |
| • retinoid metabolic process (GO:0001523) | • retinol metabolic process (GO:0042572) |
Pathways
• Retinol metabolism (Reactome: R-HSA-975634)
• Visual phototransduction (Reactome: R-HSA-2182203)
• Metabolism of vitamins and cofactors (Reactome: R-HSA-196854)
Protein Summary
DHRS3 is a 318-amino acid protein belonging to the short-chain dehydrogenase/reductase superfamily. It localizes to the endoplasmic reticulum and cytosol. The enzyme uses NADP(H) as a cofactor to catalyze the reversible reduction of all-trans-retinal to all-trans-retinol. This reaction is critical for maintaining retinoid homeostasis, visual cycle function, and retinoic acid signaling. DHRS3 also participates in steroid and prostaglandin metabolism. Structural studies reveal a typical Rossmann fold for cofactor binding and a conserved catalytic triad (Ser-Tyr-Lys).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DHRS3 Knockout HEK293 Cell Line | EDJ-KQ6522 | Human | 9249 | Details Get a Quote |
| DHRS3 Knockout A-549 Cell Line | EDJ-KQ30673 | Human | 9249 | Details Get a Quote |
| DHRS3 Knockout HCT 116 Cell Line | EDJ-KQ30674 | Human | 9249 | Details Get a Quote |
| DHRS3 Knockout HeLa Cell Line | EDJ-KQ30675 | Human | 9249 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
