ETFBKMT: Electron Transfer Flavoprotein Beta Subunit Lysine Methyltransferase
A mitochondrial lysine methyltransferase regulating electron transfer flavoprotein function and cellular metabolism
Gene Information Card
| Symbol | ETFBKMT |
|---|---|
| Full Name | electron transfer flavoprotein beta subunit lysine methyltransferase |
| Gene Type | protein coding |
| Chromosomal Location | 12p11.21 |
| NCBI Gene ID | 340152 ncbi.nlm.nih.gov/gene/340152 |
| Ensembl ID | ENSG00000179010 |
| UniProt ID | A6NKF9 |
| OMIM ID | 616155 |
| HGNC ID | 40016 |
| Aliases | FLJ45244, METTL20 |
Description
ETFBKMT (electron transfer flavoprotein beta subunit lysine methyltransferase) encodes a mitochondrial enzyme that methylates lysine residues on the beta subunit of electron transfer flavoprotein (ETFB). This methylation is critical for the proper assembly and function of the electron transfer flavoprotein complex, which plays a central role in mitochondrial fatty acid oxidation and amino acid catabolism. The gene is located on chromosome 12p11.21 and is expressed in various tissues, with highest levels in tissues with high metabolic demand.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple acyl-CoA dehydrogenase deficiency (MADD) | ETFBKMT mutations may impair ETFB methylation, leading to defective electron transfer and accumulation of fatty acids and amino acids. | ClinVar: rare variants reported; functional studies suggest a role in mitochondrial dysfunction. |
| Mitochondrial disorders (general) | Altered ETFBKMT expression or function can disrupt mitochondrial energy metabolism, contributing to mitochondrial disease phenotypes. | UniProt: functional annotation; OMIM: gene-disease association. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 15.2 | High |
| Heart | 12.8 | High |
| Skeletal Muscle | 10.5 | Medium |
| Kidney | 8.9 | Medium |
| Brain | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.4 | Hepatocyte carcinoma cell line; high expression |
| K562 | 7.2 | Chronic myelogenous leukemia; moderate expression |
| HeLa | 6.1 | Cervical carcinoma; moderate expression |
| A549 | 4.8 | Lung carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | Rare (<0.01%) | Potential loss of methyltransferase activity; associated with mitochondrial dysfunction in case reports. |
| c.560A>G (p.Asn187Ser) | Missense | Rare (<0.01%) | Predicted damaging; may affect substrate binding. |
| c.112G>A (p.Gly38Arg) | Missense | Not reported in large cohorts | Uncertain significance; in silico predictions suggest deleterious effect. |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish methyltransferase activity, leading to hypomethylation of ETFB and impaired electron transfer.
Gain of Function (GOF)
No evidence of gain-of-function mutations; not reported in literature.
Dominant Negative (DN)
No evidence of dominant-negative effects; ETFBKMT is likely haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
| • N-methyltransferase activity (GO:0008170) | • mitochondrion (GO:0005739) |
| • mitochondrial matrix (GO:0005759) | • protein methyltransferase activity (GO:0008276) |
| • methylation (GO:0032259) |
Pathways
• Mitochondrial fatty acid beta-oxidation
• Electron transport chain (ETF-ubiquinone oxidoreductase pathway)
Protein Summary
ETFBKMT is a 45 kDa mitochondrial matrix protein that specifically methylates lysine 199 and 202 on the beta subunit of electron transfer flavoprotein (ETFB). This methylation is essential for the stability and assembly of the ETFB-ETFA heterodimer, which transfers electrons from flavoprotein dehydrogenases to the main respiratory chain. The protein contains a conserved SET domain responsible for its methyltransferase activity. ETFBKMT is ubiquitously expressed, with higher levels in tissues with high oxidative metabolism, such as liver and heart. Dysregulation of ETFBKMT has been linked to mitochondrial dysfunction and metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ETFBKMT Knockout HEK293 Cell Line | EDJ-KQ11751 | Human | 254013 | Details Get a Quote |
| ETFBKMT Knockout A-549 Cell Line | EDJ-KQ40135 | Human | 254013 | Details Get a Quote |
| ETFBKMT Knockout HCT 116 Cell Line | EDJ-KQ40136 | Human | 254013 | Details Get a Quote |
| ETFBKMT Knockout HeLa Cell Line | EDJ-KQ59247 | Human | 254013 | Details Get a Quote |
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