ACOT4: Acyl-CoA Thioesterase 4
Gene encoding a peroxisomal acyl-CoA thioesterase involved in lipid metabolism and bile acid synthesis.
Gene Information Card
| Symbol | ACOT4 |
|---|---|
| Full Name | Acyl-CoA Thioesterase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 23621 ncbi.nlm.nih.gov/gene/23621 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8N9L9 |
| OMIM ID | 614315 |
| HGNC ID | HGNC:15904 |
| Aliases | PTE-2, PTE2, ACOT4, hPTE2 |
Description
ACOT4 encodes a peroxisomal acyl-CoA thioesterase that catalyzes the hydrolysis of acyl-CoAs to free fatty acids and coenzyme A. It is involved in lipid metabolism, particularly in the peroxisomal beta-oxidation pathway and bile acid synthesis. The enzyme shows substrate preference for medium- and long-chain acyl-CoAs, including branched-chain acyl-CoAs derived from phytanic acid.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisomal biogenesis disorder (Zellweger spectrum) | Loss of peroxisomal function leads to accumulation of very long-chain fatty acids; ACOT4 deficiency may contribute to metabolic dysregulation. | Inferred from pathway; no direct ACOT4 mutations reported in Zellweger patients. |
| Bile acid synthesis defect | ACOT4 participates in the hydrolysis of bile acid intermediates; dysfunction may impair bile acid conjugation. | Inferred from biochemical function; no direct clinical evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.7 | Low |
| Adipose tissue | 4.2 | Low |
| Brain | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 3.8 | Embryonic kidney cells |
| Caco-2 | 5.1 | 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 | Rare | Likely loss of start codon; predicted to abolish protein translation. |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown significance; not reported in ClinVar. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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:0042760 - very long-chain fatty acid catabolic process |
Pathways
• Peroxisomal beta-oxidation (Reactome: R-HSA-390247)
• Bile acid and bile salt metabolism (Reactome: R-HSA-194068)
Protein Summary
ACOT4 is a 404-amino acid peroxisomal acyl-CoA thioesterase that hydrolyzes acyl-CoAs to free fatty acids and CoA. It is highly expressed in liver and kidney, consistent with its role in peroxisomal lipid metabolism. The enzyme acts on medium- and long-chain acyl-CoAs, including branched-chain substrates, and is implicated in bile acid synthesis. No disease-causing mutations have been clinically validated, but its pathway involvement suggests potential relevance to peroxisomal disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACOT4 Knockout HEK293 Cell Line | EDJ-KQ8169 | Human | 122970 | Details Get a Quote |
| ACOT4 Knockout A-549 Cell Line | EDJ-KQ34078 | Human | 122970 | Details Get a Quote |
| ACOT4 Knockout HeLa Cell Line | EDJ-KQ32744 | Human | 122970 | Details Get a Quote |
| ACOT4 Knockout HCT 116 Cell Line | EDJ-KQ75016 | Human | 122970 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
