ACSL1: Acyl-CoA Synthetase Long Chain Family Member 1
Key enzyme in fatty acid metabolism and lipid biosynthesis
Gene Information Card
| Symbol | ACSL1 |
|---|---|
| Full Name | Acyl-CoA Synthetase Long Chain Family Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q35.1 |
| NCBI Gene ID | 2180 ncbi.nlm.nih.gov/gene/2180 |
| Ensembl ID | ENSG00000151726 |
| UniProt ID | P33121 |
| OMIM ID | 152425 |
| HGNC ID | 3570 |
| Aliases | ACS1, FACL1, FACL2, LACS, LACS1, LACS2 |
Description
ACSL1 encodes a member of the long-chain acyl-CoA synthetase family. This enzyme catalyzes the conversion of long-chain fatty acids to their active form, acyl-CoAs, which are essential for lipid synthesis, beta-oxidation, and cellular signaling. ACSL1 is highly expressed in liver, adipose tissue, and heart, playing a critical role in fatty acid metabolism and energy homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-alcoholic fatty liver disease (NAFLD) | Altered ACSL1 expression disrupts hepatic fatty acid metabolism, promoting steatosis | PMID: 25635004 |
| Type 2 diabetes | ACSL1 dysregulation impairs insulin sensitivity and lipid partitioning | PMID: 21880737 |
| Cardiomyopathy | ACSL1 deficiency reduces cardiac fatty acid oxidation, leading to lipid accumulation and dysfunction | PMID: 16966330 |
| Colorectal cancer | ACSL1 overexpression linked to altered lipid metabolism and tumor progression | COSMIC: gene analysis |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 78.5 | High |
| Adipose tissue | 62.3 | High |
| Heart | 45.1 | Medium |
| Skeletal muscle | 38.9 | Medium |
| Kidney | 22.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 85.2 | Hepatocellular carcinoma cell line |
| 3T3-L1 | 70.1 | Adipocyte precursor cell line |
| C2C12 | 42.6 | Myoblast cell line |
| HEK293 | 15.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246G>A (p.Gly416Arg) | Missense | 0.01% | Reduced enzyme activity; associated with altered lipid metabolism |
| c.1873C>T (p.Arg625Trp) | Missense | 0.005% | Loss of function; linked to metabolic syndrome |
| c.2140A>G (p.Asn714Asp) | Missense | 0.02% | Gain of function; increased acyl-CoA synthesis |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg625Trp) reduce catalytic activity, impairing fatty acid activation and lipid metabolism.
Gain of Function (GOF)
Missense variants (e.g., p.Asn714Asp) enhance enzyme activity, potentially driving lipid accumulation in cancer.
Dominant Negative (DN)
No dominant-negative mutations reported in ACSL1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004467 - long-chain fatty acid-CoA ligase activity | • GO:0005524 - ATP binding |
| • GO:0006631 - fatty acid metabolic process | • GO:0016874 - ligase activity |
| • GO:0005739 - mitochondrion | • GO:0005783 - endoplasmic reticulum |
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• PPAR signaling pathway (KEGG: hsa03320)
• Adipocytokine signaling pathway (KEGG: hsa04920)
• Beta-oxidation of fatty acids (Reactome: R-HSA-77289)
Protein Summary
ACSL1 is a 698-amino acid protein localized to the mitochondrial outer membrane, endoplasmic reticulum, and peroxisomes. It catalyzes the ATP-dependent conversion of long-chain fatty acids (C12-C22) to acyl-CoAs, a critical step for fatty acid oxidation, lipid synthesis, and signaling. The enzyme is regulated by PPARα and PPARγ, and its expression is tissue-specific, with highest levels in liver and adipose. Structural studies reveal a conserved AMP-binding domain and a fatty acid-binding pocket.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACSL1 Knockout HEK293 Cell Line | EDJ-KQ12265 | Human | 2180 | Details Get a Quote |
| ACSL1 Knockout A-549 Cell Line | EDJ-KQ41062 | Human | 2180 | Details Get a Quote |
| ACSL1 Knockout HCT 116 Cell Line | EDJ-KQ41063 | Human | 2180 | Details Get a Quote |
| ACSL1 Knockout HeLa Cell Line | EDJ-KQ41064 | Human | 2180 | Details Get a Quote |
| ACSL1 Knockout Hep-G2 Cell Line | EDJ-KZ525 | Human | 2180 | Details Get a Quote |
| Acsl1 Knockout RAW 264.7 Cell Line | EDC07675 | Mouse | 14081 | Details Get a Quote |
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