• Gene id: 110599564

Gene Summary

• Gene Symbol: EEF1AKMT4   Gene   UCSC   Ensembl
• Gene name: EEF1A lysine methyltransferase 4
• Alternate names: EEF1A lysine methyltransferase 4, eukaryotic translation elongation factor 1 alpha lysine specific methyltransferase 4,
• Gene location: 3q27.1 (184249671: 184258758)     Exons: 3     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the lysine-specific methyltransferase (KMT) family. The encoded enzyme catalyzes the methylation of lysine-36 of the eukaryotic translation elongation factor 1 alpha. Methylation by this enzyme may affect endoplasmic reticulu

Protein Summary

• Protein general information: P0DPD7  
  • Name: EEF1A lysine methyltransferase 4 (EC 2.1.1. )
  • Length: 255  
  • Mass: 28306
• Sequence:

  MASPGAGRAPPELPERNCGYREVEYWDQRYQGAADSAPYDWFGDFSSFRALLEPELRPEDRILVLGCGNSALSYE
  LFLGGFPNVTSVDYSSVVVAAMQARHAHVPQLRWETMDVRKLDFPSASFDVVLEKGTLDALLAGERDPWTVSSEG
  VHTVDQVLSEVSRVLVPGGRFISMTSAAPHFRTRHYAQAYYGWSLRHATYGSGFHFHLYLMHKGGKLSVAQLALG
  AQILSPPRPPTSPCFLQDSDHEDFLSAIQL

• Structural information:
  • Interpro: IPR013216  IPR029063  
  • PDB: 2PXX
  • PDBsum: 2PXX
• Other Databases: GeneCards:  EEF1AKMT4  Malacards:  EEF1AKMT4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016279	protein-lysine N-methyltransferase activity	IDA	molecular function
GO:0008168	methyltransferase activity	IMP	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:0018022	peptidyl-lysine methylation	IEA	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray