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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ACOT1
acyl-CoA thioesterase 1
Chromosome 14 Β· 14q24.3
NCBI Gene: 641371Ensembl: ENSG00000184227.8HGNC: HGNC:33128UniProt: E9KL42
45PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
acyl-CoA metabolic processvery long-chain fatty acid metabolic processmitochondrioncytosolGeneralized hypotoniaBlackfan-Diamond anemiaalpha thalassemia-intellectual disability syndrome type 1Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
✦AI Summary

ACOT1 (acyl-CoA thioesterase 1) is a cytosolic enzyme that catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A, thereby regulating intracellular levels of these metabolites 1. The enzyme shows substrate preference for saturated and unsaturated long-chain fatty acyl-CoAs (C12-C20) and plays a crucial role in fatty acid metabolism 1. ACOT1 functions as a protective factor against cellular damage by modulating lipid composition and preventing ferroptosis, a form of iron-dependent cell death characterized by lipid peroxidation 2. In cardiomyocytes, ACOT1 prevents doxorubicin-induced ferroptosis by shaping lipid composition, and its overexpression provides protection against this cell death pathway 2. However, ACOT1 downregulation is associated with increased susceptibility to ferroptosis in diabetic heart failure 3. The enzyme's expression is regulated by metabolic states, being downregulated during fasting in adipose tissue 4 and suppressed by FXR activation, which reduces fatty acid oxidation 5. Clinically, ACOT1 expression correlates with poor prognosis in gastric adenocarcinoma, where increased expression is associated with advanced tumor characteristics and decreased overall survival 6. The enzyme can also interact with environmental toxins like PFOA through specific amino acid residues 7.

Sources cited
1
ACOT1 is a cytosolic enzyme that hydrolyzes acyl-CoAs to free fatty acids and CoA, with substrate preference for long-chain acyl-CoAs
PMID: 16940157
2
ACOT1 protects cardiomyocytes from ferroptosis by modulating lipid composition and its overexpression provides cellular protection
PMID: 32934217
3
ACOT1 downregulation is associated with increased ferroptosis susceptibility in diabetic heart failure
PMID: 38824159
4
ACOT1 expression is downregulated during fasting in human adipose tissue
PMID: 32866087
5
FXR activation suppresses ACOT1 expression and reduces fatty acid oxidation
PMID: 34856412
6
Increased ACOT1 expression correlates with poor prognosis and decreased survival in gastric adenocarcinoma
PMID: 29555575
7
ACOT1 can interact with environmental toxin PFOA through specific amino acid residues
PMID: 34365018
Disease Associationsβ“˜20
Generalized hypotoniaOpen Targets
0.33Weak
Blackfan-Diamond anemiaOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.06Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.06Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
steatosisOpen Targets
0.05Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.05Suggestive
delta-beta-thalassemiaOpen Targets
0.05Suggestive
IRIDA syndromeOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
hypertriglyceridemia 2Open Targets
0.05Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.05Suggestive
Rh deficiency syndromeOpen Targets
0.05Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.05Suggestive
hemolytic anemia due to erythrocyte adenosine deaminase overproductionOpen Targets
0.05Suggestive
PyropoikilocytosisOpen Targets
0.05Suggestive
Pathogenic Variants1
NM_001037161.2(ACOT1):c.410_423del (p.Glu137fs)Pathogenic
Generalized hypotonia
β˜†β˜†β˜†β˜†β†’ Residue 137
View on ClinVar β†—
Related Genes
FBP1Protein interaction98%PFKLProtein interaction98%PFKMProtein interaction98%PFKPProtein interaction98%FBP2Protein interaction98%ACOT8Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Heart
29%
Lung
18%
Ovary
11%
Brain
9%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
ACOT1FBP1PFKLPFKMPFKPFBP2ACOT8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q86TX2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.53LoF Tolerant
pLIβ“˜
0.20Tolerant
Observed/Expected LoF0.52 [0.21–1.53]
RankingsWhere ACOT1 stands among ~20K protein-coding genes
  • #9,406of 20,598
    Most Researched45
  • #5,128of 5,498
    Most Pathogenic Variants1
  • #15,354of 17,882
    Most Constrained (LOEUF)1.53
Genes detectedACOT1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
ACOT1 expression is associated with poor prognosis in gastric adenocarcinoma.
PMID: 29555575
Hum Pathol Β· 2018
1.00
2
Pangenomic analysis of Chinese gastric cancer.
PMID: 36109518
Nat Commun Β· 2022
0.90
3
Interactions of perfluorooctanoic acid with acyl-CoA thioesterase 1 (Acot1).
PMID: 34365018
Comp Biochem Physiol C Toxicol Pharmacol Β· 2021
0.80
4
Acyl-CoA thioesterase 1 prevents cardiomyocytes from Doxorubicin-induced ferroptosis via shaping the lipid composition.
PMID: 32934217
Cell Death Dis Β· 2020
0.70
5
Regulation of cardiac ferroptosis in diabetic human heart failure: uncovering molecular pathways and key targets.
PMID: 38824159
Cell Death Discov Β· 2024
0.60