THEM5
Thioesterase Superfamily Member 5
Gene Information Card
| Symbol | THEM5 |
|---|---|
| Full Name | Thioesterase Superfamily Member 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 284323 ncbi.nlm.nih.gov/gene/284323 |
| Ensembl ID | ENSG00000186205 |
| UniProt ID | Q8N2K0 |
| OMIM ID | 617654 |
| HGNC ID | 28351 |
| Aliases | ACOT13, MGC13170 |
Description
THEM5 (thioesterase superfamily member 5) encodes a mitochondrial acyl-CoA thioesterase that catalyzes the hydrolysis of acyl-CoAs to free fatty acids and coenzyme A. It is involved in lipid metabolism and mitochondrial function. The gene is located on chromosome 1p32.3 and is expressed in multiple tissues, with highest levels in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial fatty acid oxidation disorders | Impaired hydrolysis of acyl-CoAs may disrupt mitochondrial energy metabolism | Inferred from functional similarity to other acyl-CoA thioesterases (PMID: 23334806) |
| Cancer (general) | Altered lipid metabolism in tumors; THEM5 expression changes observed in some cancers | COSMIC database; limited direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 6.2 | Low |
| Skeletal Muscle | 4.1 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| HEK293 | 7.4 | Embryonic kidney cells |
| HeLa | 5.6 | Cervical cancer cells |
| A549 | 4.2 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Likely benign (ClinVar) |
| c.100C>T | Missense | <0.01% | Uncertain significance (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No known dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • acyl-CoA metabolic process (GO:0006637) | • mitochondrion (GO:0005739) |
| • thioester hydrolase activity (GO:0016790) | • fatty acid metabolic process (GO:0006631) |
Pathways
• ['Fatty acid metabolism (Reactome: R-HSA-8978868)']
• ['Mitochondrial fatty acid beta-oxidation (KEGG: hsa00071)']
Protein Summary
THEM5 is a 137-amino acid mitochondrial thioesterase that hydrolyzes medium- and long-chain acyl-CoA thioesters. It plays a role in regulating mitochondrial acyl-CoA pools and fatty acid oxidation. The protein is ubiquitously expressed with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THEM5 Knockout HEK293 Cell Line | EDJ-KQ15720 | Human | 284486 | Details Get a Quote |
| THEM5 Knockout HeLa Cell Line | EDJ-KQ59475 | Human | 284486 | Details Get a Quote |
| THEM5 Knockout A-549 Cell Line | EDJ-KQ67940 | Human | 284486 | Details Get a Quote |
| THEM5 Knockout HCT 116 Cell Line | EDJ-KQ76320 | Human | 284486 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
