ACSM3: Acyl-CoA Synthetase Medium-Chain Family Member 3
Key enzyme in mitochondrial fatty acid metabolism and potential biomarker in metabolic disorders
Gene Information Card
| Symbol | ACSM3 |
|---|---|
| Full Name | acyl-CoA synthetase medium-chain family member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.11 |
| NCBI Gene ID | 6296 ncbi.nlm.nih.gov/gene/6296 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | Q53FZ2 |
| OMIM ID | 614359 |
| HGNC ID | 24125 |
| Aliases | SAH, MGC150433, MGC150434 |
Description
ACSM3 (acyl-CoA synthetase medium-chain family member 3) encodes a mitochondrial enzyme that catalyzes the ATP-dependent activation of medium-chain fatty acids (C4-C12) to their corresponding acyl-CoA thioesters. This reaction is the first step in mitochondrial fatty acid beta-oxidation. The enzyme also exhibits activity towards salicylate and other aromatic carboxylates. ACSM3 is expressed in liver, kidney, and heart, and its dysregulation has been implicated in metabolic disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) - modifier | ACSM3 may influence metabolic flux in fatty acid oxidation; variants could modulate disease severity | PMID: 23463024 |
| Hepatocellular carcinoma | Downregulation of ACSM3 in tumor tissue; potential tumor suppressor role via altered lipid metabolism | PMID: 28723890 |
| Colorectal cancer | Hypermethylation of ACSM3 promoter leading to reduced expression; associated with poor prognosis | PMID: 30108163 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Skeletal muscle | 3.2 | Low |
| Brain | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 9.8 | Moderate expression |
| HeLa (cervical) | 2.4 | Low expression |
| A549 (lung) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.104C>T (p.Thr35Met) | missense | <0.01% | Rare variant; functional impact uncertain |
| c.487G>A (p.Gly163Arg) | missense | <0.01% | Located in AMP-binding domain; may reduce catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants in the AMP-binding domain (e.g., p.Gly163Arg) are predicted to impair enzyme activity, reducing medium-chain fatty acid activation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ACSM3.
Dominant Negative (DN)
No dominant-negative mutations have been described for ACSM3.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003987 - acetate-CoA ligase activity | • GO:0005524 - ATP binding |
| • GO:0005739 - mitochondrion | • GO:0006635 - fatty acid beta-oxidation |
| • GO:0016874 - ligase activity |
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• Beta-oxidation of medium-chain fatty acids (KEGG: map00071)
Protein Summary
ACSM3 is a 576-amino acid mitochondrial protein belonging to the acyl-CoA synthetase family. It contains an AMP-binding domain and a CoA-binding domain. The enzyme activates medium-chain fatty acids (C4-C12) and salicylate, playing a critical role in mitochondrial beta-oxidation. Structural studies indicate a homodimeric organization. Post-translational modifications include N-terminal acetylation and phosphorylation at Ser-123.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACSM3 Knockout HEK293 Cell Line | EDJ-KQ5711 | Human | 6296 | Details Get a Quote |
| ACSM3 Knockout A-549 Cell Line | EDJ-KQ29087 | Human | 6296 | Details Get a Quote |
| ACSM3 Knockout HCT 116 Cell Line | EDJ-KQ27831 | Human | 6296 | Details Get a Quote |
| ACSM3 Knockout HeLa Cell Line | EDJ-KQ54389 | Human | 6296 | Details Get a Quote |
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