ACSM1: Acyl-CoA Synthetase Medium Chain Family Member 1
Key enzyme in mitochondrial fatty acid activation and metabolism
Gene Information Card
| Symbol | ACSM1 |
|---|---|
| Full Name | Acyl-CoA Synthetase Medium Chain Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.3 |
| NCBI Gene ID | 116285 ncbi.nlm.nih.gov/gene/116285 |
| Ensembl ID | ENSG00000166710 |
| UniProt ID | Q6NUN0 |
| OMIM ID | 614359 |
| HGNC ID | 24187 |
| Aliases | MACS1, ACSM, FLJ20581 |
Description
ACSM1 encodes a member of the acyl-CoA synthetase family that activates medium-chain fatty acids (C4-C12) by converting them to acyl-CoAs, a critical step for mitochondrial beta-oxidation. The enzyme is localized to mitochondria and is highly expressed in liver and kidney, where it participates in energy metabolism and detoxification of xenobiotics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) | ACSM1 variants may alter substrate flux, but direct causal link not established | ClinVar |
| Colorectal cancer | ACSM1 expression is downregulated in tumor tissues, suggesting a tumor suppressor role | COSMIC |
| Hepatocellular carcinoma | Reduced ACSM1 expression correlates with poor prognosis | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small intestine | 5.1 | Medium |
| Adrenal gland | 3.2 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Liver cancer cell line |
| HEK293 | 4.5 | Embryonic kidney |
| Caco-2 | 6.0 | Colorectal adenocarcinoma |
| MCF7 | 1.2 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | 0.001% | Loss of start codon, likely loss of function |
| c.104C>T (p.Thr35Met) | Missense | 0.005% | Reduced enzyme activity in vitro |
| c.512G>A (p.Arg171His) | Missense | 0.002% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
c.1A>G (p.Met1?) and c.104C>T (p.Thr35Met) reduce or abolish enzyme activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003987 - acetate-CoA ligase activity | • GO:0005739 - mitochondrion |
| • GO:0006631 - fatty acid metabolic process | • GO:0016874 - ligase activity |
Pathways
• Mitochondrial fatty acid beta-oxidation (Reactome: R-HSA-77289)
• Metabolism of lipids (Reactome: R-HSA-556833)
Protein Summary
ACSM1 is a 579-amino acid mitochondrial enzyme that catalyzes the ATP-dependent conversion of medium-chain fatty acids (C4-C12) to their acyl-CoA derivatives. It is essential for the entry of these fatty acids into the beta-oxidation cycle. The protein contains a conserved AMP-binding domain and is highly expressed in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACSM1 Knockout HEK293 Cell Line | EDJ-KQ7561 | Human | 116285 | Details Get a Quote |
| ACSM1 Knockout HeLa Cell Line | EDJ-KQ57978 | Human | 116285 | Details Get a Quote |
| ACSM1 Knockout A-549 Cell Line | EDJ-KQ66467 | Human | 116285 | Details Get a Quote |
| ACSM1 Knockout HCT 116 Cell Line | EDJ-KQ74888 | Human | 116285 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
