SQLE (Squalene Epoxidase) Gene
Key enzyme in cholesterol biosynthesis and potential oncogene
Gene Information Card
| Symbol | SQLE |
|---|---|
| Full Name | Squalene Epoxidase |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.13 |
| NCBI Gene ID | 6713 ncbi.nlm.nih.gov/gene/6713 |
| Ensembl ID | ENSG00000104549 |
| UniProt ID | Q14534 |
| OMIM ID | 602019 |
| HGNC ID | 11280 |
| Aliases | ERG1, SE, SQLEP1 |
Description
SQLE encodes squalene epoxidase, a flavin adenine dinucleotide (FAD)-dependent monooxygenase that catalyzes the first oxygenation step in cholesterol biosynthesis, converting squalene to 2,3-oxidosqualene. This enzyme is rate-limiting for sterol synthesis and is regulated by sterol regulatory element-binding proteins (SREBPs). Overexpression of SQLE is implicated in various cancers and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cholesterol metabolism disorders | Altered enzyme activity leads to dysregulated cholesterol synthesis | OMIM #602019 |
| Prostate cancer | SQLE amplification and overexpression promote tumor growth via cholesterol accumulation | COSMIC; PMID: 26344107 |
| Hepatocellular carcinoma | Upregulation of SQLE supports membrane biosynthesis and proliferation | COSMIC; PMID: 29395075 |
| Breast cancer | SQLE overexpression associated with poor prognosis and lipid metabolism reprogramming | COSMIC; PMID: 31004056 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 28.5 | High |
| Adrenal gland | 15.2 | Medium |
| Small intestine | 12.8 | Medium |
| Brain | 2.1 | Low |
| Heart | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 32.4 | High expression in liver cancer line |
| MCF7 | 18.7 | Moderate expression in breast cancer line |
| PC3 | 22.1 | High expression in prostate cancer line |
| A549 | 14.3 | Moderate expression in lung cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1135C>T (p.Arg379Cys) | Missense | <0.01% | Unknown functional effect |
| c.1246G>A (p.Val416Met) | Missense | <0.01% | Unknown functional effect |
| Amplification | Copy number gain | ~5% in prostate cancer | Increased enzyme activity and cholesterol synthesis |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may reduce enzyme activity, but no confirmed loss-of-function mutations reported in ClinVar.
Gain of Function (GOF)
Gene amplification and overexpression lead to increased squalene epoxidase activity, contributing to oncogenesis.
Dominant Negative (DN)
No dominant-negative mutations described for SQLE.
View complete mutation data：
Gene Ontology (GO)
| • squalene monooxygenase activity (GO:0004506) | • cholesterol biosynthetic process (GO:0006695) |
| • endoplasmic reticulum membrane (GO:0005783) | • flavin adenine dinucleotide binding (GO:0050660) |
Pathways
• Cholesterol biosynthesis (Reactome: R-HSA-191273)
• Metabolism of lipids (Reactome: R-HSA-556833)
• SREBP signaling (KEGG: hsa04979)
Protein Summary
Squalene epoxidase (UniProt Q14534) is a 574-amino acid membrane-bound enzyme localized to the endoplasmic reticulum. It contains a FAD-binding domain and catalyzes the epoxidation of squalene to 2,3-oxidosqualene, a key step in cholesterol synthesis. The protein is regulated by post-translational modifications and interacts with NADPH-cytochrome P450 reductase. Its expression is controlled by SREBP transcription factors in response to cellular sterol levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SQLE Knockout HEK293 Cell Line | EDJ-KQ3102 | Human | 6713 | Details Get a Quote |
| SQLE Knockout A-549 Cell Line | EDJ-KQ23052 | Human | 6713 | Details Get a Quote |
| SQLE Knockout HCT 116 Cell Line | EDJ-KQ24432 | Human | 6713 | Details Get a Quote |
| SQLE Knockout HeLa Cell Line | EDJ-KQ24433 | Human | 6713 | Details Get a Quote |
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