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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACSL5
acyl-CoA synthetase long chain family member 5
Chromosome 10 · 10q25.2
NCBI Gene: 51703Ensembl: ENSG00000197142.11HGNC: HGNC:16526UniProt: A0A8C8L3F5
69PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionendoplasmic reticulummembraneoleoyl-CoA ligase activitymathematical abilitydiarrhea 13idiopathic pulmonary fibrosisarthritis
✦AI Summary

ACSL5 (acyl-CoA synthetase long chain family member 5) is a mitochondrial and endoplasmic reticulum-localized enzyme that catalyzes the conversion of long-chain fatty acids to acyl-CoAs, primarily facilitating fatty acid β-oxidation rather than lipid synthesis 1. The enzyme shows preference for C16-C18 fatty acids and plays crucial roles in cellular energy metabolism 2. ACSL5 functions as a metabolic regulator in multiple tissues: in the liver, it prevents nonalcoholic fatty liver disease by promoting fatty acid oxidation when deacetylated by SIRT6 1, and its stabilization by USP29 through K48 deubiquitination protects against metabolic dysfunction-associated steatotic liver disease 3. In intestinal stem cells, ACSL5 is essential for renewal through HNF4-mediated transcriptional regulation of fatty acid oxidation genes 2. Intestine-specific ACSL5 deficiency increases postprandial GLP-1 and PYY secretion, reducing food intake and protecting against diet-induced obesity 4. In cancer, ACSL5 generally functions as a tumor suppressor, enhancing MHC-I-mediated antigen presentation and sensitizing tumors to immunotherapy 5, though its role varies by cancer type 6. The enzyme has been implicated in hepatocellular carcinoma progression through the PPARGC1A/BAMBI/ACSL5 axis 7 and identified as a potential ALS risk gene 8.

Sources cited
1
ACSL5 facilitates hepatic fatty acid oxidation when deacetylated by SIRT6, preventing NAFLD
PMID: 36208627
2
ACSL5 is required for intestinal stem cell renewal and is regulated by HNF4 transcription factors
PMID: 31759926
3
USP29 stabilizes ACSL5 through K48 deubiquitination to promote fatty acid β-oxidation
PMID: 39355870
4
Intestinal ACSL5 deficiency increases GLP-1/PYY secretion and protects against diet-induced obesity
PMID: 38499083
5
ACSL5 functions as tumor suppressor by enhancing MHC-I antigen presentation
PMID: 38350448
6
ACSL5 mainly acts as tumor suppressor but role varies by cancer type
PMID: 34332918
7
ACSL5 involvement in hepatocellular carcinoma through PPARGC1A/BAMBI/ACSL5 axis
PMID: 36932115
8
ACSL5 identified as potential ALS risk gene through molecular QTL mapping
PMID: 36482247
Disease Associationsⓘ21
mathematical abilityOpen Targets
0.46Moderate
diarrhea 13Open Targets
0.33Weak
idiopathic pulmonary fibrosisOpen Targets
0.33Weak
arthritisOpen Targets
0.30Weak
adrenal gland diseaseOpen Targets
0.29Weak
ovarian dysfunctionOpen Targets
0.28Weak
amyotrophic lateral sclerosisOpen Targets
0.18Weak
alcohol drinkingOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
glycogen storage disease due to lactate dehydrogenase H-subunit deficiencyOpen Targets
0.07Suggestive
systemic lupus erythematosusOpen Targets
0.07Suggestive
alcohol sensitivity, acuteOpen Targets
0.05Suggestive
neonatal intrahepatic cholestasis due to citrin deficiencyOpen Targets
0.05Suggestive
acatalasiaOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
Congenital bile acid synthesis defect type 1Open Targets
0.04Suggestive
progressive familial intrahepatic cholestasisOpen Targets
0.04Suggestive
Platelet-activating factor acetylhydrolase deficiencyOpen Targets
0.04Suggestive
fish eye diseaseOpen Targets
0.04Suggestive
Fish-eye diseaseOpen Targets
0.04Suggestive
Diarrhea 13UniProt
Pathogenic Variants1
NM_203379.2(ACSL5):c.1358C>A (p.Thr453Lys)Pathogenic
Diarrhea 13
☆☆☆☆2023→ Residue 453
View on ClinVar ↗
Related Genes
ACAA1Protein interaction100%SLC27A1Protein interaction97%MGLLProtein interaction94%PNPLA2Protein interaction92%CPT1AProtein interaction91%CPT1BProtein interaction91%
Tissue Expression6 tissues
Liver
100%
Lung
34%
Bone Marrow
32%
Ovary
13%
Heart
10%
Brain
6%
Gene Interaction Network
Click a node to explore
ACSL5ACAA1SLC27A1MGLLPNPLA2CPT1ACPT1B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9ULC5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.70LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.55 [0.43–0.70]
RankingsWhere ACSL5 stands among ~20K protein-coding genes
  • #6,780of 20,598
    Most Researched69
  • #5,001of 5,498
    Most Pathogenic Variants1
  • #5,347of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedACSL5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cytoplasmic SIRT6-mediated ACSL5 deacetylation impedes nonalcoholic fatty liver disease by facilitating hepatic fatty acid oxidation.
PMID: 36208627
Mol Cell · 2022
1.00
2
Dietary elaidic acid boosts tumoral antigen presentation and cancer immunity via ACSL5.
PMID: 38350448
Cell Metab · 2024
0.90
3
ACSL family: The regulatory mechanisms and therapeutic implications in cancer.
PMID: 34332918
Eur J Pharmacol · 2021
0.80
4
HNF4 Regulates Fatty Acid Oxidation and Is Required for Renewal of Intestinal Stem Cells in Mice.
PMID: 31759926
Gastroenterology · 2020
0.70
5
USP29 alleviates the progression of MASLD by stabilizing ACSL5 through K48 deubiquitination.
PMID: 39355870
Clin Mol Hepatol · 2025
0.60