DHRS1: Dehydrogenase/Reductase 1
A member of the short-chain dehydrogenase/reductase (SDR) superfamily involved in lipid and steroid metabolism.
Gene Information Card
| Symbol | DHRS1 |
|---|---|
| Full Name | Dehydrogenase/Reductase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 115817 ncbi.nlm.nih.gov/gene/115817 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q96LJ7 |
| OMIM ID | 612830 |
| HGNC ID | 28629 |
| Aliases | SDR19C1, DHR1, FLJ20533 |
Description
DHRS1 (Dehydrogenase/Reductase 1) is a protein-coding gene belonging to the short-chain dehydrogenase/reductase (SDR) superfamily. The encoded enzyme is involved in the metabolism of lipids and steroids, catalyzing the NAD(P)H-dependent reduction of carbonyl groups. DHRS1 is expressed in multiple tissues and may play a role in detoxification and hormone biosynthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM as of 2025. | N/A | N/A |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Adrenal gland | 7.1 | Medium |
| Lung | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| HEK293 | 6.5 | Embryonic kidney cells |
| A549 | 4.0 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations curated in ClinVar as of 2025. | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity (GO:0016491) | • NAD binding (GO:0051287) |
| • lipid metabolic process (GO:0006629) | • steroid metabolic process (GO:0008202) |
| • cytoplasm (GO:0005737) |
Pathways
• Metabolism of lipids (Reactome: R-HSA-556833)
• Phase I - Functionalization of compounds (Reactome: R-HSA-211945)
Protein Summary
The DHRS1 protein (UniProt Q96LJ7) is a 317-amino acid enzyme with a molecular mass of approximately 35 kDa. It contains a conserved NAD(P)H-binding domain characteristic of the SDR family. The protein is localized in the cytoplasm and is involved in the reduction of carbonyl substrates, contributing to lipid and steroid metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DHRS13 Knockout HEK293 Cell Line | EDJ-KQ2943 | Human | 147015 | Details Get a Quote |
| DHRS1 Knockout HEK293 Cell Line | EDJ-KQ7535 | Human | 115817 | Details Get a Quote |
| DHRS11 Knockout HEK293 Cell Line | EDJ-KQ13147 | Human | 79154 | Details Get a Quote |
| DHRS12 Knockout HEK293 Cell Line | EDJ-KQ13148 | Human | 79758 | Details Get a Quote |
| DHRS13 Knockout A-549 Cell Line | EDJ-KQ24066 | Human | 147015 | Details Get a Quote |
| DHRS13 Knockout HCT 116 Cell Line | EDJ-KQ24067 | Human | 147015 | Details Get a Quote |
| DHRS13 Knockout HeLa Cell Line | EDJ-KQ24068 | Human | 147015 | Details Get a Quote |
| DHRS11 Knockout A-549 Cell Line | EDJ-KQ41240 | Human | 79154 | Details Get a Quote |
| DHRS1 Knockout HCT 116 Cell Line | EDJ-KQ31470 | Human | 115817 | Details Get a Quote |
| DHRS1 Knockout A-549 Cell Line | EDJ-KQ32822 | Human | 115817 | Details Get a Quote |
| DHRS1 Knockout HeLa Cell Line | EDJ-KQ32823 | Human | 115817 | Details Get a Quote |
| DHRS11 Knockout HCT 116 Cell Line | EDJ-KQ42475 | Human | 79154 | Details Get a Quote |
| DHRS11 Knockout HeLa Cell Line | EDJ-KQ42476 | Human | 79154 | Details Get a Quote |
| DHRS12 Knockout A-549 Cell Line | EDJ-KQ42477 | Human | 79758 | Details Get a Quote |
| DHRS12 Knockout HCT 116 Cell Line | EDJ-KQ42478 | Human | 79758 | Details Get a Quote |
