RETSAT
Retinol Saturase: A Key Enzyme in Vitamin A Metabolism and Lipid Homeostasis
Gene Information Card
| Symbol | RETSAT |
|---|---|
| Full Name | retinol saturase |
| Gene Type | protein-coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 54884 ncbi.nlm.nih.gov/gene/54884 |
| Ensembl ID | ENSG00000115947 |
| UniProt ID | Q6NUM9 |
| OMIM ID | 614157 |
| HGNC ID | 25999 |
| Aliases | FLJ20186, MGC138290, MGC138291 |
Description
The RETSAT gene encodes retinol saturase, an enzyme that catalyzes the saturation of all-trans-retinol to all-trans-13,14-dihydroretinol. This reaction is a key step in vitamin A metabolism, influencing retinoid signaling and lipid homeostasis. RETSAT is expressed in various tissues and is implicated in metabolic and inflammatory processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Altered retinol metabolism may affect adipocyte differentiation and energy balance. | PMID: 21884936 |
| Type 2 Diabetes | Dysregulation of RETSAT expression linked to insulin resistance. | PMID: 21884936 |
| Non-alcoholic Fatty Liver Disease (NAFLD) | Reduced RETSAT activity may contribute to hepatic steatosis. | PMID: 21884936 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose Tissue | 8.3 | Medium |
| Kidney | 6.7 | Low |
| Small Intestine | 5.9 | Low |
| Pancreas | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| 3T3-L1 | 7.8 | Adipocyte precursor cell line |
| HEK293 | 3.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown functional impact |
| c.457G>A (p.Val153Ile) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum membrane (GO:0005789) | • integral component of membrane (GO:0016021) |
| • oxidoreductase activity (GO:0016491) | • vitamin A metabolic process (GO:0006776) |
| • lipid metabolic process (GO:0006629) |
Pathways
• Vitamin A and carotenoid metabolism (Reactome: R-HSA-975634)
• Retinoid metabolism and transport (KEGG: map00830)
Protein Summary
Retinol saturase is a 67 kDa transmembrane protein localized to the endoplasmic reticulum. It contains a flavin adenine dinucleotide (FAD)-binding domain and catalyzes the saturation of all-trans-retinol to all-trans-13,14-dihydroretinol. This enzyme plays a role in regulating retinoid signaling and lipid metabolism, with implications in obesity, diabetes, and liver disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RETSAT Knockout HEK293 Cell Line | EDJ-KQ14286 | Human | 54884 | Details Get a Quote |
| RETSAT Knockout A-549 Cell Line | EDJ-KQ45583 | Human | 54884 | Details Get a Quote |
| RETSAT Knockout HCT 116 Cell Line | EDJ-KQ45585 | Human | 54884 | Details Get a Quote |
| RETSAT Knockout HeLa Cell Line | EDJ-KQ45586 | Human | 54884 | Details Get a Quote |
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