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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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THEM5
thioesterase superfamily member 5
Chromosome 1 · 1q21.3
NCBI Gene: 284486Ensembl: ENSG00000196407.12HGNC: HGNC:26755UniProt: Q8N1Q8
10PubMed Papers
17Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
long-chain fatty-acyl-CoA metabolic processlong-chain fatty acyl-CoA hydrolase activitymitochondrial matrixmitochondrionneutropenianeonatal intrahepatic cholestasis due to citrin deficiencyfunctional neutrophil defectSchnyder corneal dystrophy
✦AI Summary

THEM5 (thioesterase superfamily member 5) is a mitochondrial acyl-CoA thioesterase that catalyzes hydrolysis of long-chain fatty acyl-CoA substrates, particularly unsaturated species like linoleoyl-CoA 1. As a member of the 'hotdog' fold enzyme superfamily within type II ACOTs, THEM5 adopts a classical homodimeric structure and maintains cellular lipid homeostasis by regulating free and activated fatty acid ratios 2. THEM5 plays a critical role in cardiolipin remodeling, the key phospholipid component of the inner mitochondrial membrane 1. Loss of THEM5 impairs mitochondrial function, including respiration and β-oxidation capacity, and causes dysregulation of lipid metabolism leading to fatty liver development, particularly under high-fat diet conditions 1. Beyond fatty acid metabolism, THEM5 exhibits broader clinical relevance: differential transcript usage of THEM5 has been identified in Parkinson's disease brains with predicted functional consequences 3, higher THEM5 expression associates with cisplatin-induced peripheral neuropathy in cancer survivors 4, and THEM5 appears in prognostic gene signatures for acute kidney transplant rejection 5 and glioblastoma outcome prediction 6. These findings establish THEM5 as essential for mitochondrial lipid homeostasis with pleiotropic implications in neurodegeneration and cancer biology.

Sources cited
1
THEM5 shows strong thioesterase activity with long-chain acyl-CoAs, plays critical roles in cardiolipin remodeling and mitochondrial function, and loss causes fatty liver development
PMID: 22586271
2
THEM5 is a type II ACOT member with 'hotdog' fold structure that catalyzes hydrolysis of acyl-CoA to maintain proper cellular lipid ratios
PMID: 20846931
3
THEM5 exhibits differential transcript usage in Parkinson's disease brain with predicted functional consequences for subcellular localization
PMID: 33137089
4
Higher THEM5 expression is genetically associated with cisplatin-induced peripheral neuropathy in cancer survivors
PMID: 28611204
5
THEM5 is part of a 5-gene signature for predicting acute rejection after kidney transplantation
PMID: 36393969
6
THEM5 is included in a mitochondria-associated 9-gene prognostic signature for glioblastoma patient stratification
PMID: 41144088
Disease Associationsⓘ17
neutropeniaOpen Targets
0.22Weak
neonatal intrahepatic cholestasis due to citrin deficiencyOpen Targets
0.03Suggestive
functional neutrophil defectOpen Targets
0.02Suggestive
Schnyder corneal dystrophyOpen Targets
0.01Suggestive
laryngeal squamous cell carcinomaOpen Targets
0.01Suggestive
myelodysplastic syndromeOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
cutaneous lupus erythematosusOpen Targets
0.00Suggestive
papillary thyroid carcinomaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
obesityOpen Targets
0.00Suggestive
Parkinson diseaseOpen Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
urinary bladder carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACOT1Protein interaction91%TECRProtein interaction90%ACOT2Protein interaction90%ACOT7Protein interaction90%THEM4Protein interaction90%ACOT4Protein interaction90%
Tissue Expression6 tissues
Liver
100%
Brain
97%
Heart
34%
Lung
30%
Bone Marrow
27%
Ovary
9%
Gene Interaction Network
Click a node to explore
THEM5ACOT1TECRACOT2ACOT7THEM4ACOT4
PROTEIN STRUCTURE
Preparing viewer…
PDB4AE7 · 1.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.49LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.09 [0.81–1.49]
RankingsWhere THEM5 stands among ~20K protein-coding genes
  • #17,192of 20,598
    Most Researched10
  • #15,135of 17,882
    Most Constrained (LOEUF)1.49
Genes detectedTHEM5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Evolutionary divergence and functions of the human acyl-CoA thioesterase gene ( ACOT ) family.
PMID: 20846931
Hum Genomics · 2010
1.00
2
Acyl coenzyme A thioesterase Them5/Acot15 is involved in cardiolipin remodeling and fatty liver development.
PMID: 22586271
Mol Cell Biol · 2012
0.90
3
Characteristic Genes and Immune Infiltration Analysis for Acute Rejection after Kidney Transplantation.
PMID: 36393969
Dis Markers · 2022
0.80
4
Comprehensive analysis of mitochondria-associated genes in glioblastoma via single-cell and bulk RNA sequencing.
PMID: 41144088
Discov Oncol · 2025
0.70
5
Overview of carboxyl‑terminal modulator protein 1 and its importance in various metabolic regulations (Review).
PMID: 38994770
Mol Med Rep · 2024
0.60