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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EEF1AKMT1
EEF1A lysine methyltransferase 1
Chromosome 13 Β· 13q12.11
NCBI Gene: 221143Ensembl: ENSG00000150456.12HGNC: HGNC:27351UniProt: B2RE94
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein-lysine N-methyltransferase activityprotein methylationcytosolnucleic acid bindingalcohol drinkingmathematical abilityintelligencebone remodeling disease
✦AI Summary

EEF1AKMT1 (also known as N6AMT2) is a protein lysine methyltransferase that selectively catalyzes trimethylation of elongation factor 1A (eEF1A) at lysine 79 1. This enzyme is conserved from yeast to humans, with the trimethylation of Lys(79) in eEF1A preserved across eukaryotes, suggesting functional importance 1. EEF1A is an essential, highly methylated protein that facilitates translational elongation by delivering aminoacyl-tRNAs to ribosomes 1. EEF1AKMT1 represents one of multiple independent methyltransferases that modify eEF1A, indicating extensive regulation of translation elongation by posttranslational modification 1. In disease contexts, deletion of EEF1AKMT1 located on chromosome 13.11 has been associated with a novel syndromic progressive corneal opacification featuring epithelial and stromal changes, alongside sensorineural hearing loss and tracheal/laryngeal abnormalities in affected families 2. Pathway analysis of tissues from affected individuals revealed upregulation of collagen metabolism and extracellular matrix formation, suggesting that loss of EEF1AKMT1 function may dysregulate ECM homeostasis 2. These findings highlight EEF1AKMT1's role in both basic translational regulation and human genetic disease.

Sources cited
1
EEF1AKMT1 (N6AMT2) catalyzes trimethylation of eEF1A at Lys(79); this methylation is conserved from yeast to humans and one of multiple methyltransferases modifying eEF1A
PMID: 26545399
2
EEF1AKMT1 deletion in chromosome 13q12.11 microdeletion associated with progressive corneal opacification, sensorineural hearing loss, and tracheomalacia/laryngomalacia; downregulation correlates with ECM dysregulation
PMID: 37239394
3
EEF1AKMT1 knockout results in expected loss of lysine 79 methylation on eEF1A; knockout produces proteomic changes related to eEF1A function
PMID: 28663172
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
alcohol drinkingOpen Targets
0.28Weak
mathematical abilityOpen Targets
0.17Weak
intelligenceOpen Targets
0.17Weak
bone remodeling diseaseOpen Targets
0.04Suggestive
hypertensionOpen Targets
0.03Suggestive
response to antihypertensive drugOpen Targets
0.02Suggestive
spinal cord injuryOpen Targets
0.02Suggestive
asthmaOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
autosomal recessive Robinow syndromeOpen Targets
0.00Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
glioma susceptibility 1Open Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
squamous cell lung carcinomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
METTL22Shared pathway100%METTL21AShared pathway100%ETFBKMTShared pathway100%EEF1AKMT2Protein interaction93%EEF1A1Protein interaction81%XPO4Protein interaction79%
Tissue Expression6 tissues
Heart
100%
Liver
93%
Brain
90%
Ovary
84%
Lung
63%
Bone Marrow
48%
Gene Interaction Network
Click a node to explore
EEF1AKMT1METTL22METTL21AETFBKMTEEF1AKMT2EEF1A1XPO4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q8WVE0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.17LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.56–1.17]
RankingsWhere EEF1AKMT1 stands among ~20K protein-coding genes
  • #14,689of 20,598
    Most Researched18
  • #12,238of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedEEF1AKMT1
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
METTL21B Is a Novel Human Lysine Methyltransferase of Translation Elongation Factor 1A: Discovery by CRISPR/Cas9 Knockout.
PMID: 28663172
Mol Cell Proteomics Β· 2017
1.00
2
A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification.
PMID: 37239394
Genes (Basel) Β· 2023
0.67
3
Novel N-terminal and Lysine Methyltransferases That Target Translation Elongation Factor 1A in Yeast and Human.
PMID: 26545399
Mol Cell Proteomics Β· 2016
0.33