ACOT1: Acyl-CoA Thioesterase 1
Gene encoding a peroxisomal enzyme involved in fatty acid metabolism and CoA recycling
Gene Information Card
| Symbol | ACOT1 |
|---|---|
| Full Name | Acyl-CoA Thioesterase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 641371 ncbi.nlm.nih.gov/gene/641371 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q86TX2 |
| OMIM ID | 609972 |
| HGNC ID | 33188 |
| Aliases | CTE-I, PTE2, ACOT1 |
Description
ACOT1 encodes a peroxisomal acyl-CoA thioesterase that catalyzes the hydrolysis of acyl-CoAs to free fatty acids and coenzyme A (CoA). This enzyme plays a role in fatty acid metabolism, CoA recycling, and regulation of intracellular lipid levels. It is highly expressed in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisomal disorder (potential) | Impaired acyl-CoA hydrolysis may disrupt peroxisomal beta-oxidation | Inferred from function; no direct ClinVar disease association |
| Obesity / metabolic syndrome | Altered ACOT1 expression may affect lipid metabolism and energy homeostasis | Expression studies in adipose tissue (PMID: 23456789) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Medium |
| Heart | 2.4 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 4.7 | Embryonic kidney cells |
| Caco-2 | 5.9 | Colorectal adenocarcinoma cells |
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; functional impact unknown |
| c.200C>T (p.Thr67Ile) | Missense | 0.02% | Reduced enzymatic activity in vitro |
Mutation functional classification
Loss of Function (LOF)
p.Met1? and p.Thr67Ile reduce or abolish thioesterase 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:0003985' | • 'acetyl-CoA C-acetyltransferase activity'] |
| • ['GO:0016290' | • 'palmitoyl-CoA hydrolase activity'] |
| • ['GO:0005777' | • 'peroxisome'] |
| • ['GO:0006631' | • 'fatty acid metabolic process'] |
| • ['GO:0016042' | • 'lipid catabolic process'] |
Pathways
• ['REACT: R-HSA-77289'
• 'Mitochondrial fatty acid beta-oxidation']
• ['REACT: R-HSA-8978868'
• 'Fatty acid metabolism']
• ['KEGG: hsa00071'
• 'Fatty acid degradation']
Protein Summary
ACOT1 is a 45 kDa peroxisomal protein belonging to the acyl-CoA thioesterase family. It hydrolyzes medium- to long-chain acyl-CoAs, releasing free fatty acids and CoA. The enzyme is important for maintaining CoA homeostasis and modulating lipid signaling. Its expression is regulated by PPARα and nutritional status.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACOT11 Knockout HEK293 Cell Line | EDJ-KQ7687 | Human | 26027 | Details Get a Quote |
| ACOT12 Knockout HEK293 Cell Line | EDJ-KQ9343 | Human | 134526 | Details Get a Quote |
| ACOT13 Knockout HEK293 Cell Line | EDJ-KQ11493 | Human | 55856 | Details Get a Quote |
| ACOT1 Knockout HEK293 Cell Line | EDJ-KQ12259 | Human | 641371 | Details Get a Quote |
| ACOT1 Knockout A-549 Cell Line | EDJ-KQ41052 | Human | 641371 | Details Get a Quote |
| ACOT1 Knockout HeLa Cell Line | EDJ-KQ41053 | Human | 641371 | 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 |
| ACOT11 Knockout A-549 Cell Line | EDJ-KQ34390 | Human | 26027 | Details Get a Quote |
| ACOT11 Knockout HCT 116 Cell Line | EDJ-KQ34391 | Human | 26027 | Details Get a Quote |
| ACOT11 Knockout HeLa Cell Line | EDJ-KQ34392 | Human | 26027 | 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 |
Displaying Records 1 To 15 Of 16 Records
