ACSM5: Acyl-CoA Synthetase Medium-Chain Family Member 5
Comprehensive genomic and proteomic overview of ACSM5, a mitochondrial enzyme involved in fatty acid metabolism.
Gene Information Card
| Symbol | ACSM5 |
|---|---|
| Full Name | Acyl-CoA Synthetase Medium-Chain Family Member 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.11 |
| NCBI Gene ID | 54988 ncbi.nlm.nih.gov/gene/54988 |
| Ensembl ID | ENSG00000161944 |
| UniProt ID | Q6NUN0 |
| OMIM ID | 614359 |
| HGNC ID | 24013 |
| Aliases | MACS, MACS2, ACSM5 |
Description
ACSM5 encodes a member of the acyl-CoA synthetase medium-chain family. The encoded enzyme is localized to the mitochondria and catalyzes the ATP-dependent conversion of medium-chain fatty acids to their corresponding acyl-CoA thioesters, a key step in fatty acid oxidation and lipid metabolism. ACSM5 is expressed in various tissues, with highest levels in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) | ACSM5 dysfunction may impair medium-chain fatty acid oxidation, but direct causal evidence is limited. | ClinVar: uncertain significance variants reported. |
| Colorectal cancer | Altered ACSM5 expression has been observed in tumor tissues; potential role in metabolic reprogramming. | COSMIC: somatic mutations identified in colorectal carcinoma samples. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 4.1 | Low |
| Heart | 2.0 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 10.2 | High expression |
| HEK293 (embryonic kidney) | 6.7 | Moderate expression |
| Caco-2 (colorectal) | 3.5 | Low expression |
| MCF7 (breast) | 0.8 | Not detected |
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 | 0.02% | Uncertain significance; ClinVar |
| c.512G>A (p.Arg171His) | Missense | 0.01% | Uncertain significance; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ACSM5 are predicted to reduce medium-chain fatty acid activation, potentially impairing mitochondrial beta-oxidation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ACSM5.
Dominant Negative (DN)
No dominant-negative mutations have been described for ACSM5.
View complete mutation data：
Gene Ontology (GO)
| • acetate-CoA ligase activity (GO:0003987) | • mitochondrion (GO:0005739) |
| • fatty acid metabolic process (GO:0006631) | • acyl-CoA metabolic process (GO:0006637) |
| • ligase activity (GO:0016874) |
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• Beta-oxidation of medium-chain fatty acids (KEGG: map00071)
Protein Summary
The ACSM5 protein is a 576-amino acid mitochondrial acyl-CoA synthetase that activates medium-chain fatty acids (C6-C12) by forming acyl-CoA thioesters. It belongs to the acyl-CoA synthetase family and plays a role in lipid catabolism. The protein is expressed predominantly in liver and kidney, and its activity is essential for efficient energy production from medium-chain fatty acids.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACSM5 Knockout HEK293 Cell Line | EDJ-KQ12269 | Human | 54988 | Details Get a Quote |
| ACSM5 Knockout HeLa Cell Line | EDJ-KQ56518 | Human | 54988 | Details Get a Quote |
| ACSM5 Knockout A-549 Cell Line | EDJ-KQ65011 | Human | 54988 | Details Get a Quote |
| ACSM5 Knockout HCT 116 Cell Line | EDJ-KQ73456 | Human | 54988 | Details Get a Quote |
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