EEF1AKMT1 (EEF1A lysine methyltransferase 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 221143
Gene name EEF1A lysine methyltransferase 1
Gene symbol EEF1AKMT1
Synonyms (NCBI Gene)
ESP13N6AMT2eEF1A-KMT
Chromosome 13
Chromosome location 13q12.11
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
GO:0008168 Function Methyltransferase activity IDA 26545399
GO:0008168 Function Methyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617793 27351 ENSG00000150456
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WVE0
Protein name EEF1A lysine methyltransferase 1 (EC 2.1.1.-) (N(6)-adenine-specific DNA methyltransferase 2) (Protein-lysine N-methyltransferase N6AMT2) (eEF1A-KMT)
Protein function Protein N-lysine methyltransferase that selectively catalyzes the trimethylation of EEF1A at 'Lys-79'.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10237 N6-adenineMlase 46 → 208 Probable N6-adenine methyltransferase Family
Sequence
Sequence length 214
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Protein methylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CUTANEOUS MELANOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anterior segment mesenchymal dysgenesis Anterior segment mesenchymal dysgenesis Pubtator 37239394 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only