• Gene id: 196483

Gene Summary

• Gene Symbol: EEF2KMT   Gene   UCSC   Ensembl
• Aliases: EFM3, FAM86A, SB153, eEF2-KMT
• Gene name: eukaryotic elongation factor 2 lysine methyltransferase
• Alternate names: protein-lysine N-methyltransferase EEF2KMT, eEF2-lysine methyltransferase, family with sequence similarity 86, member A, protein FAM86A, putative protein N-methyltransferase FAM86A,
• Gene location: 16p13.3 (5097819: 5084283)     Exons: 21     NC_000016.10
• OMIM: 615263

Protein Summary

• Protein general information: Q96G04  
  • Name: Protein lysine N methyltransferase EEF2KMT (EC 2.1.1. ) (eEF2 lysine methyltransferase) (eEF2 KMT)
  • Length: 330  
  • Mass: 36915
• Sequence:

  MAPEENAGTELLLQSFERRFLAARTLRSFPWQSLEAKLRDSSDSELLRDILHKTVKHPVCVKHPPSVKYARCFLS
  ELIKKHEAVHTEPLDELYEALAETLMAKESTQGHRSYLLPSGGSVTLSESTAIISYGTTGLVTWDAALYLAEWAI
  ENPAVFTNRTVLELGSGAGLTGLAICKMCRPRAYIFSDCHSRVLEQLRGNVLLNGLSLEADITAKLDSPRVTVAQ
  LDWDVATVHQLSAFQPDVVIAADVLYCPEAIMSLVGVLRRLAACREHQRAPEVYVAFTVRNPETCQLFTTELGRA
  GIRWEVEPRHEQKLFPYEEHLEMAMLNLTL

• Structural information:
  • Interpro: IPR029426  IPR019410  IPR029063  
  • STRING: ENSP00000398502
• Other Databases: GeneCards:  EEF2KMT  Malacards:  EEF2KMT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0016279	protein-lysine N-methyltransferase activity	IBA	molecular function
GO:0018023	peptidyl-lysine trimethylation	IBA	biological process
GO:0032259	methylation	IBA	biological process
GO:0008168	methyltransferase activity	IBA	molecular function
GO:0018023	peptidyl-lysine trimethylation	IDA	biological process
GO:0016279	protein-lysine N-methyltransferase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006479	protein methylation	TAS	biological process
GO:0016279	protein-lysine N-methyltransferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881