ACOT13: Acyl-CoA Thioesterase 13
Gene encoding a mitochondrial acyl-CoA thioesterase involved in lipid metabolism and energy homeostasis.
Gene Information Card
| Symbol | ACOT13 |
|---|---|
| Full Name | Acyl-CoA Thioesterase 13 |
| Gene Type | Protein-coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 55856 ncbi.nlm.nih.gov/gene/55856 |
| Ensembl ID | ENSG00000112304 |
| UniProt ID | Q9NPJ3 |
| OMIM ID | 615652 |
| HGNC ID | 23432 |
| Aliases | THEM2, HT012, PNAS-27, MGC14291 |
Description
ACOT13 encodes a member of the acyl-CoA thioesterase family, specifically the hotdog-fold thioesterase superfamily. The protein localizes to mitochondria and catalyzes the hydrolysis of acyl-CoAs to free fatty acids and coenzyme A, playing a role in lipid metabolism, mitochondrial beta-oxidation, and energy homeostasis. It is also implicated in cell proliferation and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of ACOT13 promotes lipid droplet accumulation and cell proliferation in liver cancer cells. | PMID: 25620004 |
| Colorectal cancer | ACOT13 is upregulated in colorectal tumors and associated with poor prognosis; may regulate fatty acid metabolism in cancer cells. | PMID: 29187724 |
| Metabolic syndrome | Altered ACOT13 expression affects fatty acid oxidation and lipid storage, contributing to metabolic dysregulation. | PMID: 23395176 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.2 | Low |
| Adipose tissue | 15.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.2 | Liver cancer cell line; high expression |
| HEK293 | 7.8 | Embryonic kidney; moderate expression |
| HeLa | 5.4 | Cervical cancer; low expression |
| MCF7 | 9.1 | Breast cancer; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.152C>T (p.Pro51Leu) | Missense | 0.0004 (gnomAD) | Unknown functional impact; located in hotdog domain |
| c.289G>A (p.Gly97Arg) | Missense | 0.0001 (gnomAD) | Predicted damaging by SIFT; may affect enzyme activity |
| c.94_96del (p.Glu32del) | In-frame deletion | Rare | Loss of conserved residue; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
In-frame deletions or missense mutations in the hotdog domain may impair thioesterase activity, reducing fatty acid hydrolysis.
Gain of Function (GOF)
Not reported; no activating mutations documented.
Dominant Negative (DN)
Not reported; no evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • acetyl-CoA hydrolase activity (GO:0003985) | • palmitoyl-CoA hydrolase activity (GO:0016290) |
| • mitochondrion (GO:0005739) | • fatty acid metabolic process (GO:0006631) |
| • fatty acid homeostasis (GO:0055089) |
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• Mitochondrial beta-oxidation (Reactome: R-HSA-77289)
• Acyl-CoA thioesterase pathway (KEGG: hsa00071)
Protein Summary
ACOT13 is a 140-amino acid mitochondrial thioesterase with a hotdog-fold domain. It hydrolyzes medium- to long-chain acyl-CoAs, regulating intracellular fatty acid levels and CoA availability. The protein forms a homodimer and is involved in lipid metabolism, energy production, and cell growth. Overexpression in cancers suggests a role in metabolic reprogramming.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACOT13 Knockout HEK293 Cell Line | EDJ-KQ11493 | Human | 55856 | Details Get a Quote |
| ACOT13 Knockout A-549 Cell Line | EDJ-KQ41054 | Human | 55856 | Details Get a Quote |
| ACOT13 Knockout HCT 116 Cell Line | EDJ-KQ41056 | Human | 55856 | Details Get a Quote |
| ACOT13 Knockout HeLa Cell Line | EDJ-KQ41057 | Human | 55856 | Details Get a Quote |
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