ACOT9: Acyl-CoA Thioesterase 9
Mitochondrial acyl-CoA thioesterase involved in lipid metabolism and energy homeostasis
Gene Information Card
| Symbol | ACOT9 |
|---|---|
| Full Name | Acyl-CoA Thioesterase 9 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq23 |
| NCBI Gene ID | 23597 ncbi.nlm.nih.gov/gene/23597 |
| Ensembl ID | ENSG00000102119 |
| UniProt ID | Q9Y305 |
| OMIM ID | 300859 |
| HGNC ID | 24188 |
| Aliases | MT-ACT48, ACATE2, CGI-16, FLJ10895 |
Description
ACOT9 encodes a mitochondrial acyl-CoA thioesterase that catalyzes the hydrolysis of acyl-CoAs to free fatty acids and coenzyme A. It is involved in lipid metabolism, energy homeostasis, and mitochondrial function. The enzyme acts on medium- and long-chain acyl-CoA substrates and may play a role in regulating intracellular fatty acid levels.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Altered lipid metabolism; ACOT9 expression changes in adipose tissue | PMID: 25644381 |
| Non-alcoholic fatty liver disease (NAFLD) | Dysregulation of hepatic acyl-CoA thioesterase activity | PMID: 28930204 |
| Colorectal cancer | Upregulated in tumor tissues; potential role in metabolic reprogramming | COSMIC: ACOT9 mutations in colorectal cancer |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.2 | Low |
| Skeletal Muscle | 6.1 | Low |
| Adipose Tissue | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK293 | 8.5 | Embryonic kidney cell line |
| HeLa | 6.9 | Cervical cancer cell line |
| MCF7 | 5.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Thr166Ile) | Missense | 0.001% (gnomAD) | Unknown functional effect |
| c.832G>A (p.Glu278Lys) | Missense | 0.0005% (gnomAD) | Unknown functional effect |
| c.1054_1055del (p.Leu352fs) | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu352fs) likely result in truncated, non-functional protein.
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:0003985 - acetyl-CoA C-acyltransferase activity | • GO:0016290 - palmitoyl-CoA hydrolase activity |
| • GO:0005739 - mitochondrion | • GO:0006631 - fatty acid metabolic process |
| • GO:0055088 - lipid homeostasis |
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• Mitochondrial fatty acid beta-oxidation (KEGG: hsa00071)
Protein Summary
ACOT9 is a 48 kDa mitochondrial protein belonging to the acyl-CoA thioesterase family. It hydrolyzes acyl-CoA esters to free fatty acids and CoA-SH, preferentially acting on medium- to long-chain substrates (C12-C18). The enzyme is expressed in metabolically active tissues such as liver and adipose tissue, and its activity is implicated in regulating lipid flux and mitochondrial function. Structural studies reveal a conserved hotdog fold typical of thioesterases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACOT9 Knockout HEK293 Cell Line | EDJ-KQ8085 | Human | 23597 | Details Get a Quote |
| ACOT9 Knockout A-549 Cell Line | EDJ-KQ33932 | Human | 23597 | Details Get a Quote |
| ACOT9 Knockout HeLa Cell Line | EDJ-KQ33933 | Human | 23597 | Details Get a Quote |
| ACOT9 Knockout HCT 116 Cell Line | EDJ-KQ32594 | Human | 23597 | Details Get a Quote |
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