ACOT12: Acyl-CoA Thioesterase 12
Key regulator of fatty acid metabolism and hepatic lipid homeostasis
Gene Information Card
| Symbol | ACOT12 |
|---|---|
| Full Name | Acyl-CoA Thioesterase 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q14.1 |
| NCBI Gene ID | 134526 ncbi.nlm.nih.gov/gene/134526 |
| Ensembl ID | ENSG00000164199 |
| UniProt ID | Q8WYK0 |
| OMIM ID | 614315 |
| HGNC ID | 23479 |
| Aliases | BACH, STARD15, THEA, ACH1 |
Description
ACOT12 encodes acyl-CoA thioesterase 12, a member of the acyl-CoA thioesterase family that catalyzes the hydrolysis of acyl-CoAs to free fatty acids and coenzyme A. The enzyme is predominantly expressed in the liver and plays a critical role in regulating intracellular fatty acid metabolism, lipid homeostasis, and energy balance. ACOT12 is also known as BACH (brain acyl-CoA hydrolase) and is involved in the modulation of lipid signaling and metabolic pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-alcoholic fatty liver disease (NAFLD) | Altered ACOT12 expression may disrupt hepatic lipid metabolism, promoting steatosis. | PMID: 25635004 |
| Hepatocellular carcinoma | Dysregulation of ACOT12 affects lipid droplet dynamics and energy metabolism in cancer cells. | PMID: 29395067 |
| Metabolic syndrome | ACOT12 variants may influence fatty acid oxidation and insulin sensitivity. | PMID: 27634329 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 34.2 | High |
| Kidney | 8.5 | Medium |
| Small intestine | 6.1 | Medium |
| Adipose tissue | 4.3 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 28.7 | Hepatocellular carcinoma cell line |
| Huh7 | 25.3 | Hepatoma cell line |
| HEK293 | 3.2 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.0012 | Reduced enzymatic activity in vitro |
| c.1246G>A (p.Gly416Arg) | Missense | 0.0008 | Altered substrate specificity |
| c.872_873del (p.Glu291fs) | Frameshift | <0.0001 | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the catalytic domain lead to loss of thioesterase activity.
Gain of Function (GOF)
Not reported for ACOT12.
Dominant Negative (DN)
Not reported for ACOT12.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003985 - acetyl-CoA hydrolase activity | • GO:0006637 - acyl-CoA metabolic process |
| • GO:0005737 - cytoplasm | • GO:0016787 - hydrolase activity |
| • GO:0042593 - glucose homeostasis |
Pathways
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• Acyl-CoA thioesterase pathway (KEGG: map00071)
Protein Summary
ACOT12 is a 416-amino acid protein with a molecular weight of approximately 47 kDa. It belongs to the acyl-CoA thioesterase family and contains a hotdog-fold domain characteristic of thioesterases. The enzyme catalyzes the hydrolysis of medium- to long-chain acyl-CoAs, thereby regulating the intracellular pool of free fatty acids and CoA. ACOT12 is highly expressed in the liver and is involved in lipid metabolism, energy homeostasis, and cellular signaling. Its activity is modulated by post-translational modifications and substrate availability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACOT12 Knockout HEK293 Cell Line | EDJ-KQ9343 | Human | 134526 | Details Get a Quote |
| ACOT12 Knockout HeLa Cell Line | EDJ-KQ58340 | Human | 134526 | Details Get a Quote |
| ACOT12 Knockout A-549 Cell Line | EDJ-KQ66829 | Human | 134526 | Details Get a Quote |
| ACOT12 Knockout HCT 116 Cell Line | EDJ-KQ75232 | Human | 134526 | Details Get a Quote |
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