ACSL3: Acyl-CoA Synthetase Long Chain Family Member 3
Key enzyme in fatty acid metabolism, linked to cancer and metabolic disorders
Gene Information Card
| Symbol | ACSL3 |
|---|---|
| Full Name | Acyl-CoA Synthetase Long Chain Family Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q36.1 |
| NCBI Gene ID | 2181 ncbi.nlm.nih.gov/gene/2181 |
| Ensembl ID | ENSG00000123983 |
| UniProt ID | O95573 |
| OMIM ID | 602371 |
| HGNC ID | 357 |
| Aliases | ACS3, FACL3, LACS3 |
Description
ACSL3 encodes a member of the long-chain acyl-CoA synthetase family, which catalyzes the conversion of long-chain fatty acids to their active form acyl-CoAs. This enzyme plays a critical role in lipid biosynthesis, fatty acid degradation, and cellular signaling. ACSL3 is involved in the activation of fatty acids for both energy production and incorporation into complex lipids. It is expressed in various tissues and is implicated in cancer, particularly through its fusion with EWSR1 in myxoid liposarcoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myxoid Liposarcoma | Fusion of ACSL3 with EWSR1 (t(12;16)(q13;p11)) leads to oncogenic transformation. | PMID: 7550342 |
| Hepatocellular Carcinoma | Overexpression of ACSL3 promotes lipid accumulation and tumor growth. | PMID: 28263307 |
| Prostate Cancer | ACSL3 expression is upregulated and associated with lipid metabolism reprogramming. | PMID: 25609684 |
| Colorectal Cancer | ACSL3 contributes to fatty acid activation and cell proliferation. | PMID: 29323277 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose Tissue | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 4.8 | Low |
| Kidney | 7.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocellular carcinoma cell line |
| MCF7 | 9.5 | Breast cancer cell line |
| A549 | 6.8 | Lung cancer cell line |
| PC3 | 11.2 | Prostate cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| EWSR1-ACSL3 fusion | Gene fusion | Rare in myxoid liposarcoma | Oncogenic activation |
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional effect |
| c.567G>A (p.Met189Ile) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
EWSR1-ACSL3 fusion is a gain-of-function oncogenic event.
Dominant Negative (DN)
Not described for ACSL3.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004467 - long-chain fatty acid-CoA ligase activity | • GO:0006631 - fatty acid metabolic process |
| • GO:0005739 - mitochondrion | • GO:0005783 - endoplasmic reticulum |
| • GO:0006635 - fatty acid beta-oxidation | • GO:0016874 - ligase activity |
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• Fatty acid activation (Reactome: R-HSA-75105)
• PPAR signaling pathway (KEGG: hsa03320)
• Lipid metabolism (KEGG: hsa01212)
Protein Summary
ACSL3 is a 720-amino acid protein localized to the endoplasmic reticulum and mitochondria. It catalyzes the ATP-dependent conversion of long-chain fatty acids (C16-C22) to acyl-CoAs, a critical step for lipid synthesis, beta-oxidation, and signaling. The protein contains an AMP-binding domain and a fatty acid-CoA ligase domain. Its fusion with EWSR1 in myxoid liposarcoma highlights its role in oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACSL3 Knockout HAP1 Cell Line | EDC08005 | Human | 2181 | Details Get a Quote |
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