EEF1AKMT3: EEF1A Lysine Methyltransferase 3
A lysine methyltransferase regulating translation elongation factor EEF1A
Gene Information Card
| Symbol | EEF1AKMT3 |
|---|---|
| Full Name | EEF1A lysine methyltransferase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 100170841 ncbi.nlm.nih.gov/gene/100170841 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | A6NNM4 |
| OMIM ID | 617985 |
| HGNC ID | 44267 |
| Aliases | METTL21B, FAM86A, bA16L21.2.1 |
Description
EEF1AKMT3 (EEF1A lysine methyltransferase 3) is a protein-coding gene that encodes a methyltransferase responsible for the trimethylation of lysine residues on eukaryotic translation elongation factor 1 alpha (EEF1A). This modification regulates translation fidelity and efficiency. The gene is located on chromosome 12q24.31 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered EEF1A methylation may impact translation and cell proliferation | Inferred from functional studies |
| Neurodegenerative disorders | Potential dysregulation of protein synthesis | Hypothetical based on EEF1A role |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Moderate expression |
| K562 | 6.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | SNV | <0.01% | Likely benign |
| c.100C>T | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • lysine methyltransferase activity | • methylation |
| • translation elongation factor binding |
Pathways
• Translation regulation
• Protein methylation
Protein Summary
EEF1AKMT3 is a 245-amino acid protein that belongs to the methyltransferase superfamily. It specifically trimethylates lysine residues in EEF1A, modulating its interaction with the ribosome and affecting translation elongation. The protein is localized in the cytoplasm.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EEF1AKMT3 Knockout HEK293 Cell Line | EDJ-KQ51148 | Human | 25895 | Details Get a Quote |
| EEF1AKMT3 Knockout HeLa Cell Line | EDJ-KQ55845 | Human | 25895 | Details Get a Quote |
| EEF1AKMT3 Knockout A-549 Cell Line | EDJ-KQ64334 | Human | 25895 | Details Get a Quote |
| EEF1AKMT3 Knockout HCT 116 Cell Line | EDJ-KQ72788 | Human | 25895 | Details Get a Quote |
