HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ACSM5
acyl-CoA synthetase medium chain family member 5
Chromosome 16 · 16p12.3
NCBI Gene: 54988Ensembl: ENSG00000183549.11HGNC: HGNC:26060UniProt: Q6NUN0
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionfatty acid ligase activityfatty-acyl-CoA synthase activityfatty acid biosynthetic processkidney failurechronic kidney diseasenephrolithiasishypertension
✦AI Summary

ACSM5 (acyl-CoA synthetase medium chain family member 5) is a mitochondrial enzyme that catalyzes the activation of fatty acids by CoA to produce acyl-CoA, representing the initial step in fatty acid metabolism 1. The enzyme localizes to the mitochondrial matrix and plays crucial roles in lipid metabolism regulation 2. ACSM5 demonstrates tumor suppressor properties across multiple cancer types. In hepatocellular carcinoma (HCC), ACSM5 is significantly downregulated due to DNA methylation by DNMT1, and its overexpression reduces fatty acid accumulation, decreases cell proliferation, migration, and invasion while inhibiting tumor growth 1. The protein induces ferroptosis in HCC cells by upregulating cytochrome P450 oxidoreductase (POR) and promoting conversion of linoleic acid to arachidonic acid, thereby increasing cellular sensitivity to ferroptosis 2. ACSM5 also functions as a suppressor in lumbar ligamentum flavum hypertrophy, where its hypermethylation-mediated downregulation promotes fibrosis and cell proliferation 3. Additionally, ACSM5 expression correlates with thyroid cancer susceptibility through m6A methylation mechanisms 4. The gene serves as a potential biomarker for various diseases and represents a promising therapeutic target, particularly in metabolic disorders and cancer treatment strategies.

Sources cited
1
ACSM5 catalyzes fatty acid activation by CoA and is downregulated in HCC due to DNA methylation
PMID: 39069168
2
ACSM5 induces ferroptosis by upregulating POR and modulating lipid metabolism
PMID: 40457725
3
ACSM5 functions as a suppressor of lumbar ligamentum flavum hypertrophy through DNMT1-mediated regulation
PMID: 34593020
4
ACSM5 is regulated by m6A methylation and associated with thyroid cancer susceptibility
PMID: 34873468
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
kidney failureOpen Targets
0.13Weak
chronic kidney diseaseOpen Targets
0.12Weak
nephrolithiasisOpen Targets
0.11Weak
hypertensionOpen Targets
0.09Suggestive
urolithiasisOpen Targets
0.09Suggestive
kidney diseaseOpen Targets
0.08Suggestive
essential hypertensionOpen Targets
0.08Suggestive
hypertensive heart diseaseOpen Targets
0.07Suggestive
HematuriaOpen Targets
0.07Suggestive
Increased blood pressureOpen Targets
0.07Suggestive
urinary tract infectionOpen Targets
0.07Suggestive
lower urinary tract calculusOpen Targets
0.07Suggestive
ureterolithiasisOpen Targets
0.07Suggestive
bladder calculusOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
cardiovascular diseaseOpen Targets
0.07Suggestive
liver cancerOpen Targets
0.06Suggestive
hydronephrosisOpen Targets
0.06Suggestive
impaired renal function diseaseOpen Targets
0.06Suggestive
type 2 diabetes nephropathyOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACSM4Shared pathway100%ACSM6Shared pathway100%ACADSProtein interaction94%HSDL2Protein interaction79%ACSM2BShared pathway67%ACSM2AShared pathway50%
Tissue Expression6 tissues
Liver
100%
Heart
1%
Lung
1%
Brain
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ACSM5ACSM4ACSM6ACADSHSDL2ACSM2BACSM2A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6NUN0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.64–1.00]
RankingsWhere ACSM5 stands among ~20K protein-coding genes
  • #15,782of 20,598
    Most Researched14
  • #9,720of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedACSM5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ACSM5 Regulates Ferroptosis in Hepatocellular Carcinoma by Up-Regulating POR and Modulating Lipid Metabolism.
PMID: 40457725
Cancer Sci · 2025
1.00
2
Epigenetic modifications in spinal ligament aging.
PMID: 35218968
Ageing Res Rev · 2022
0.90
3
Acyl-CoA Synthetase Medium-Chain Family Member 5-Mediated Fatty Acid Metabolism Dysregulation Promotes the Progression of Hepatocellular Carcinoma.
PMID: 39069168
Am J Pathol · 2024
0.80
4
Cefadroxil Targeting of SLC15A2/PEPT2 Protects From Colistin Nephrotoxicity.
PMID: 39522761
Lab Invest · 2025
0.70
5
Genome-wide identification of m6A-associated functional SNPs as potential functional variants for thyroid cancer.
PMID: 34873468
Am J Cancer Res · 2021
0.60