EEF1AKMT3 (EEF1A lysine methyltransferase 3)

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Gene Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 25895
• Gene name: EEF1A lysine methyltransferase 3
• Gene symbol: EEF1AKMT3
• Synonyms (NCBI Gene): FAM119B, METTL21B
• Chromosome: 12
• Chromosome location: 12q14.1

Gene ontology (GO) Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23349634, 32296183, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IDA
GO:0005737	Component	Cytoplasm	IDA	23349634, 28108655
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	28108655
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0008168	Function	Methyltransferase activity	IDA	28108655
GO:0008168	Function	Methyltransferase activity	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IBA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	28108655
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IMP	28663172
GO:0016740	Function	Transferase activity	IEA
GO:0018022	Process	Peptidyl-lysine methylation	IDA	28108655
GO:0018022	Process	Peptidyl-lysine methylation	IMP	28663172
GO:0031072	Function	Heat shock protein binding	IPI	23349634
GO:0032259	Process	Methylation	IEA
GO:0032991	Component	Protein-containing complex	IBA
GO:0032991	Component	Protein-containing complex	IDA	23349634
GO:0032991	Component	Protein-containing complex	IEA

Other IDs

• MIM: 615258
• HGNC: 24936
• e!Ensembl: ENSG00000123427

Protein

• UniProt ID: Q96AZ1
• Protein name: EEF1A lysine methyltransferase 3 (EC 2.1.1.-) (Hepatocellular carcinoma-associated antigen 557a) (Methyltransferase-like protein 21B) (Protein-lysine methyltransferase METTL21B) (eEF1A-KMT3)
• Protein function: Protein-lysine methyltransferase that selectively mono-, di- and trimethylates 'Lys-165' of the translation elongation factors EEF1A1 and EEF1A2 in an aminoacyl-tRNA and GTP-dependent manner. EEF1A1 methylation by EEF1AKMT3 is dynamic as well as
• PDB: 4QPN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10294	Methyltransf_16	35 → 198	Lysine methyltransferase	Family

• Sequence:

  MADPGPDPESESESVFPREVGLFADSYSEKSQFCFCGHVLTITQNFGSRLGVAARVWDAA
  LSLCNYFESQNVDFRGKKVIELGAGTGIVGILAALQGGDVTITDLPLALEQIQGNVQANV
  PAGGQAQVRALSWGIDHHVFPANYDLVLGADIVYLEPTFPLLLGTLQHLCRPHGTIYLAS
  KMRKEHGTESFFQHLLPQHFQLELAQRDEDENVNIYRARHREPRPA

• Sequence length: 226

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	29193869	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34446611	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	20405052, 20648053, 23160276, 32518073	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31321514		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for EEF1AKMT3.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to EEF1AKMT3.