HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ACAA1
acetyl-CoA acyltransferase 1
Chromosome 3 · 3p22.2
NCBI Gene: 30Ensembl: ENSG00000060971.20HGNC: HGNC:82UniProt: A0A024R2M6
70PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
bile acid metabolic processmembraneacetate CoA-transferase activityperoxisomehyperpituitarismFollicular CystSepsisneoplasm
✦AI Summary

ACAA1 (acetyl-CoA acyltransferase 1) is a peroxisomal enzyme that catalyzes the thiolytic cleavage of straight-chain 3-oxoacyl-CoAs, playing a crucial role in fatty acid β-oxidation 1. The enzyme processes short, medium, long, and very long-chain fatty acids in peroxisomes, contributing to cellular energy metabolism 1. Mechanistically, ACAA1 supplies acyl-carnitines to mitochondria for fatty acid oxidation and maintains ATP production, with knockout reducing oxygen consumption by 60% and ATP production by 70% in cancer cells 2. ACAA1 also interacts with cell cycle regulators, specifically CDK4, influencing RB1 phosphorylation and G1-S transition 3. Disease relevance includes significant dysregulation in multiple cancers, where it often shows tissue-specific expression patterns - downregulated in lung and head/neck cancers but upregulated in breast and endometrial cancers 1435. In Alzheimer's disease, the N392S mutation represents a monogenic risk factor, and ACAA1 depletion blocks biosynthesis of long-chain polyunsaturated fatty acids including docosahexaenoic acid 6. Clinically, ACAA1 serves as a prognostic biomarker across various malignancies and represents a potential therapeutic target, with compounds like trimetazidine showing efficacy in reducing ACAA1 levels 34.

Sources cited
1
ACAA1 catalyzes thiolytic cleavage of 3-oxoacyl-CoAs and processes various chain-length fatty acids
PMID: 32265992
2
ACAA1 knockout reduces oxygen consumption by 60% and ATP production by 70% in cancer cells
PMID: 40848971
3
ACAA1 interacts with CDK4 and influences RB1 phosphorylation and cell cycle progression
PMID: 37129951
4
ACAA1 is downregulated in head and neck squamous cell carcinoma and serves as prognostic biomarker
PMID: 38678878
5
ACAA1 is upregulated in endometrial cancer and promotes tumor progression
PMID: 41052583
6
ACAA1 N392S mutation is a monogenic risk factor for Alzheimer's disease and affects polyunsaturated fatty acid biosynthesis
PMID: 41224995
Disease Associationsⓘ20
hyperpituitarismOpen Targets
0.34Weak
Follicular CystOpen Targets
0.27Weak
SepsisOpen Targets
0.15Weak
neoplasmOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
lung adenocarcinomaOpen Targets
0.04Suggestive
triple-negative breast cancerOpen Targets
0.03Suggestive
asthmaOpen Targets
0.03Suggestive
clear cell renal carcinomaOpen Targets
0.02Suggestive
ovarian neoplasmOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
Myocardial IschemiaOpen Targets
0.02Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.02Suggestive
head and neck squamous cell carcinomaOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.02Suggestive
COVID-19Open Targets
0.01Suggestive
Mental deteriorationOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACADMProtein interaction100%GCDHProtein interaction100%IVDProtein interaction100%ACAD9Protein interaction100%ACSL5Protein interaction100%ECHS1Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
18%
Lung
13%
Bone Marrow
10%
Ovary
9%
Brain
6%
Gene Interaction Network
Click a node to explore
ACAA1ACADMGCDHIVDACAD9ACSL5ECHS1
PROTEIN STRUCTURE
Preparing viewer…
PDB2IIK · 2.55 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.20LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.93 [0.73–1.20]
RankingsWhere ACAA1 stands among ~20K protein-coding genes
  • #6,693of 20,598
    Most Researched70
  • #12,597of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedACAA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Inhibition of ACAA1 Restrains Proliferation and Potentiates the Response to CDK4/6 Inhibitors in Triple-Negative Breast Cancer.
PMID: 37129951
Cancer Res · 2023
1.00
2
iPEX enables micrometre-resolution deep spatial proteomics via tissue expansion.
PMID: 41224995
Nature · 2026
0.90
3
Identification of ACAA1 and HADHB as potential prognostic biomarkers based on a novel fatty acid oxidation-related gene model in head and neck squamous cell carcinoma: A retrospective study.
PMID: 38678878
Arch Oral Biol · 2024
0.80
4
ACAA1 knockout increases the survival rate of KPC mice by activating autophagy.
PMID: 40848971
Mol Metab · 2025
0.70
5
HSD17B4, ACAA1, and PXMP4 in Peroxisome Pathway Are Down-Regulated and Have Clinical Significance in Non-small Cell Lung Cancer.
PMID: 32265992
Front Genet · 2020
0.60