ACOT7: Acyl-CoA Thioesterase 7
Key regulator of fatty acid metabolism and neuronal function
Gene Information Card
| Symbol | ACOT7 |
|---|---|
| Full Name | Acyl-CoA Thioesterase 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.31 |
| NCBI Gene ID | 11332 ncbi.nlm.nih.gov/gene/11332 |
| Ensembl ID | ENSG00000097021 |
| UniProt ID | O00154 |
| OMIM ID | 603562 |
| HGNC ID | 24120 |
| Aliases | BACH, CTE-II, LACH, hACTE-III |
Description
ACOT7 encodes acyl-CoA thioesterase 7, an enzyme that catalyzes the hydrolysis of acyl-CoAs to free fatty acids and coenzyme A. It plays a critical role in lipid metabolism, particularly in the brain, where it regulates the acyl-CoA pool size and fatty acid oxidation. The gene produces multiple isoforms through alternative splicing, with predominant expression in neurons and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy | Altered ACOT7 expression may disrupt neuronal lipid homeostasis, affecting membrane excitability and seizure susceptibility. | PMID: 20628086 |
| Colorectal Cancer | ACOT7 overexpression is associated with poor prognosis and may promote tumor growth by modulating fatty acid metabolism. | PMID: 31570863 |
| Alzheimer's Disease | Dysregulation of ACOT7 in the brain may contribute to lipid droplet accumulation and neuroinflammation. | PMID: 29100055 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 58.2 | High |
| Testis | 42.1 | High |
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 35.4 | Neuronal model |
| HepG2 (hepatocellular carcinoma) | 9.2 | Low expression |
| MCF7 (breast cancer) | 15.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.527C>T (p.Ala176Val) | Missense | <0.01% | Unknown; predicted benign by PolyPhen-2 |
| c.1012G>A (p.Gly338Ser) | Missense | <0.01% | Unknown; predicted possibly damaging by SIFT |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • acyl-CoA hydrolase activity | • fatty acid metabolic process |
| • peroxisome | • cytoplasm |
| • mitochondrion |
Pathways
• Fatty acid metabolism
• Peroxisomal lipid metabolism
Protein Summary
Acyl-CoA thioesterase 7 (ACOT7) is a 382-amino acid protein that belongs to the acyl-CoA thioesterase family. It is primarily localized to the cytoplasm and peroxisomes, with highest expression in brain and testis. The enzyme hydrolyzes medium- and long-chain acyl-CoAs, regulating intracellular fatty acid levels and CoA availability. ACOT7 is implicated in neuronal signaling, energy homeostasis, and cancer metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACOT7 Knockout HEK293 Cell Line | EDJ-KQ7375 | Human | 11332 | Details Get a Quote |
| ACOT7 Knockout A-549 Cell Line | EDJ-KQ32496 | Human | 11332 | Details Get a Quote |
| ACOT7 Knockout HCT 116 Cell Line | EDJ-KQ32497 | Human | 11332 | Details Get a Quote |
| ACOT7 Knockout HeLa Cell Line | EDJ-KQ32498 | Human | 11332 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
