EEF1AKMT1: EEF1A Lysine Methyltransferase 1
A gene encoding a lysine methyltransferase that modifies translation elongation factor eEF1A, implicated in protein synthesis regulation and cancer.
Gene Information Card
| Symbol | EEF1AKMT1 |
|---|---|
| Full Name | EEF1A lysine methyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 161247 ncbi.nlm.nih.gov/gene/161247 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q5VZV1 |
| OMIM ID | 617984 |
| HGNC ID | 28235 |
| Aliases | METTL21B, FAM119B |
Description
EEF1AKMT1 (EEF1A lysine methyltransferase 1) encodes a protein that methylates translation elongation factor 1A (eEF1A) at lysine residues, modulating protein synthesis and cellular growth. It is also known as METTL21B and FAM119B. The gene is located on chromosome 20q13.12 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered methylation of eEF1A may affect translation fidelity and cell proliferation | COSMIC database reports somatic mutations in various cancers |
| Colorectal cancer | Mutations in EEF1AKMT1 observed in tumor samples | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 10.2 | Medium |
| Brain | 6.5 | Low |
| Liver | 4.1 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.0 | Embryonic kidney |
| HeLa | 5.5 | Cervical cancer |
| K562 | 4.2 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.472C>T (p.Arg158Trp) | Missense | <0.01% | Unknown |
| c.625G>A (p.Gly209Ser) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not established; potential loss of methyltransferase activity may impair eEF1A modification.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein-lysine N-methyltransferase activity (GO:0016279) | • cytoplasm (GO:0005737) |
| • translation (GO:0006412) |
Pathways
• hsa03013 (RNA transport)
• hsa04141 (Protein processing in endoplasmic reticulum)
Protein Summary
EEF1AKMT1 is a lysine methyltransferase that specifically methylates translation elongation factor 1A (eEF1A) at lysine residues. This modification influences translation elongation efficiency and protein synthesis. The protein is localized in the cytoplasm and is expressed in multiple tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EEF1AKMT1 Knockout HEK293 Cell Line | EDJ-KQ8802 | Human | 221143 | Details Get a Quote |
| EEF1AKMT1 Knockout HCT 116 Cell Line | EDJ-KQ35098 | Human | 221143 | Details Get a Quote |
| EEF1AKMT1 Knockout HeLa Cell Line | EDJ-KQ35099 | Human | 221143 | Details Get a Quote |
| EEF1AKMT1 Knockout A-549 Cell Line | EDJ-KQ33845 | Human | 221143 | Details Get a Quote |
