• Gene id: 221143

Gene Summary

• Gene Symbol: EEF1AKMT1   Gene   UCSC   Ensembl
• Aliases: ESP13, N6AMT2
• Gene name: EEF1A lysine methyltransferase 1
• Alternate names: EEF1A lysine methyltransferase 1, N-6 adenine-specific DNA methyltransferase 2 (putative), eukaryotic translation elongation factor 1 alpha lysine methyltransferase 1, n(6)-adenine-specific DNA methyltransferase 2, protein-lysine N-methyltransferase N6AMT2,
• Gene location: 13q12.11 (20773960: 20728730)     Exons: 6     NC_000013.11
• OMIM: 617793

Protein Summary

• Protein general information: Q8WVE0  
  • Name: EEF1A lysine methyltransferase 1 (EC 2.1.1. ) (N(6) adenine specific DNA methyltransferase 2) (Protein lysine N methyltransferase N6AMT2)
  • Length: 214  
  • Mass: 24506
• Sequence:

  MSDLEDDETPQLSAHALAALQEFYAEQKQQIEPGEDDKYNIGIIEENWQLSQFWYSQETALQLAQEAIAAVGEGG
  RIACVSAPSVYQKLRELCRENFSIYIFEYDKRFAMYGEEFIFYDYNNPLDLPERIAAHSFDIVIADPPYLSEECL
  RKTSETVKYLTRGKILLCTGAIMEEQAAELLGVKMCTFVPRHTRNLANEFRCYVNYDSGLDCGI

• Structural information:
  • Interpro: IPR002052  IPR019369  IPR041370  IPR029063  
  • STRING: ENSP00000372206
• Other Databases: GeneCards:  EEF1AKMT1  Malacards:  EEF1AKMT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016279	protein-lysine N-methyltransferase activity	IBA	molecular function
GO:0018022	peptidyl-lysine methylation	IBA	biological process
GO:0016279	protein-lysine N-methyltransferase activity	IDA	molecular function
GO:0018022	peptidyl-lysine methylation	IDA	biological process
GO:0008168	methyltransferase activity	IDA	molecular function
GO:0016279	protein-lysine N-methyltransferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006479	protein methylation	TAS	biological process
GO:0016279	protein-lysine N-methyltransferase activity	TAS	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016279	protein-lysine N-methyltransferase activity	IEA	molecular function
GO:0018022	peptidyl-lysine methylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881